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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-155196125-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155196125&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155196125,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001407490.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2674G>A",
"hgvs_p": "p.Val892Met",
"transcript": "NM_007112.5",
"protein_id": "NP_009043.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 956,
"cds_start": 2674,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368378.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007112.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2674G>A",
"hgvs_p": "p.Val892Met",
"transcript": "ENST00000368378.7",
"protein_id": "ENSP00000357362.3",
"transcript_support_level": 1,
"aa_start": 892,
"aa_end": null,
"aa_length": 956,
"cds_start": 2674,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007112.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368378.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Val883Met",
"transcript": "ENST00000541576.5",
"protein_id": "ENSP00000444792.2",
"transcript_support_level": 1,
"aa_start": 883,
"aa_end": null,
"aa_length": 947,
"cds_start": 2647,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541576.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.1261G>A",
"hgvs_p": "p.Val421Met",
"transcript": "ENST00000541990.5",
"protein_id": "ENSP00000437353.1",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 485,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541990.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2845G>A",
"hgvs_p": "p.Val949Met",
"transcript": "NM_001407490.1",
"protein_id": "NP_001394419.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2845,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407490.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2683G>A",
"hgvs_p": "p.Val895Met",
"transcript": "NM_001407487.1",
"protein_id": "NP_001394416.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 959,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407487.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2683G>A",
"hgvs_p": "p.Val895Met",
"transcript": "ENST00000902275.1",
"protein_id": "ENSP00000572334.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 959,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902275.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2674G>A",
"hgvs_p": "p.Val892Met",
"transcript": "ENST00000902272.1",
"protein_id": "ENSP00000572331.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 954,
"cds_start": 2674,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902272.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Val883Met",
"transcript": "NM_001252607.2",
"protein_id": "NP_001239536.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 947,
"cds_start": 2647,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252607.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Val862Met",
"transcript": "NM_001407554.1",
"protein_id": "NP_001394483.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 926,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407554.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2581G>A",
"hgvs_p": "p.Val861Met",
"transcript": "ENST00000960680.1",
"protein_id": "ENSP00000630739.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 925,
"cds_start": 2581,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960680.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2563G>A",
"hgvs_p": "p.Val855Met",
"transcript": "NM_001407555.1",
"protein_id": "NP_001394484.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 919,
"cds_start": 2563,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407555.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2563G>A",
"hgvs_p": "p.Val855Met",
"transcript": "ENST00000902273.1",
"protein_id": "ENSP00000572332.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 919,
"cds_start": 2563,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902273.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2560G>A",
"hgvs_p": "p.Val854Met",
"transcript": "NM_001407556.1",
"protein_id": "NP_001394485.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 918,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407556.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2560G>A",
"hgvs_p": "p.Val854Met",
"transcript": "NM_001407557.1",
"protein_id": "NP_001394486.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 918,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407557.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Val819Met",
"transcript": "ENST00000960681.1",
"protein_id": "ENSP00000630740.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 883,
"cds_start": 2455,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960681.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2449G>A",
"hgvs_p": "p.Val817Met",
"transcript": "NM_001407558.1",
"protein_id": "NP_001394487.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 881,
"cds_start": 2449,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407558.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Val786Met",
"transcript": "ENST00000960679.1",
"protein_id": "ENSP00000630738.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 850,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960679.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2335G>A",
"hgvs_p": "p.Val779Met",
"transcript": "ENST00000902274.1",
"protein_id": "ENSP00000572333.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 843,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902274.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2314G>A",
"hgvs_p": "p.Val772Met",
"transcript": "NM_001252608.2",
"protein_id": "NP_001239537.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 836,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252608.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS3",
"gene_hgnc_id": 11787,
"hgvs_c": "c.2314G>A",
"hgvs_p": "p.Val772Met",
"transcript": "ENST00000457183.6",
"protein_id": "ENSP00000392207.2",
"transcript_support_level": 2,
"aa_start": 772,
"aa_end": null,
"aa_length": 836,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457183.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
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{
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},
{
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],
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"exon_count": 6,
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"gene_symbol": "THBS3-AS1",
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{
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"intron_variant"
],
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "THBS3-AS1",
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"biotype": "pseudogene",
"feature": "NR_183235.1"
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{
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],
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"exon_count": 7,
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"gene_symbol": "THBS3-AS1",
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},
{
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"intron_variant"
],
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"gene_symbol": "THBS3-AS1",
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},
{
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"intron_variant"
],
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"gene_symbol": "THBS3-AS1",
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"transcript": "NR_183238.1",
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"biotype": "pseudogene",
"feature": "NR_183238.1"
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],
"gene_symbol": "THBS3",
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"dbsnp": "rs1235555031",
"frequency_reference_population": 0.0000049568876,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000478896,
"gnomad_genomes_af": 0.00000656935,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7911347150802612,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.4320000112056732,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.807,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4475,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.623,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.952466259399623,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001407490.1",
"gene_symbol": "THBS3",
"hgnc_id": 11787,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2845G>A",
"hgvs_p": "p.Val949Met"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000436772.3",
"gene_symbol": "THBS3-AS1",
"hgnc_id": 40582,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.372+757C>T",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}