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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: 8-143324535-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143324535&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143324535,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000329245.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.766G>C",
"hgvs_p": "p.Val256Leu",
"transcript": "NM_052963.3",
"protein_id": "NP_443195.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 601,
"cds_start": 766,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": "ENST00000329245.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.766G>C",
"hgvs_p": "p.Val256Leu",
"transcript": "ENST00000329245.9",
"protein_id": "ENSP00000328835.3",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 601,
"cds_start": 766,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": "NM_052963.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Val158Leu",
"transcript": "NM_001258446.1",
"protein_id": "NP_001245375.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 503,
"cds_start": 472,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 2045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Val158Leu",
"transcript": "NM_001258447.1",
"protein_id": "NP_001245376.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 503,
"cds_start": 472,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Val158Leu",
"transcript": "ENST00000519148.5",
"protein_id": "ENSP00000429169.1",
"transcript_support_level": 2,
"aa_start": 158,
"aa_end": null,
"aa_length": 503,
"cds_start": 472,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Val158Leu",
"transcript": "ENST00000521193.5",
"protein_id": "ENSP00000428369.1",
"transcript_support_level": 2,
"aa_start": 158,
"aa_end": null,
"aa_length": 503,
"cds_start": 472,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Val158Leu",
"transcript": "ENST00000523676.5",
"protein_id": "ENSP00000429181.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 503,
"cds_start": 472,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 1982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Val158Leu",
"transcript": "ENST00000519139.6",
"protein_id": "ENSP00000428451.2",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 375,
"cds_start": 472,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 1561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Val158Leu",
"transcript": "ENST00000522041.5",
"protein_id": "ENSP00000427998.1",
"transcript_support_level": 3,
"aa_start": 158,
"aa_end": null,
"aa_length": 220,
"cds_start": 472,
"cds_end": null,
"cds_length": 665,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Val158Leu",
"transcript": "ENST00000519591.5",
"protein_id": "ENSP00000429177.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 200,
"cds_start": 472,
"cds_end": null,
"cds_length": 605,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 1007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.886G>C",
"hgvs_p": "p.Val296Leu",
"transcript": "XM_047421330.1",
"protein_id": "XP_047277286.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 722,
"cds_start": 886,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.802G>C",
"hgvs_p": "p.Val268Leu",
"transcript": "XM_047421331.1",
"protein_id": "XP_047277287.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 694,
"cds_start": 802,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.766G>C",
"hgvs_p": "p.Val256Leu",
"transcript": "XM_005250781.5",
"protein_id": "XP_005250838.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 682,
"cds_start": 766,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.649G>C",
"hgvs_p": "p.Val217Leu",
"transcript": "XM_047421332.1",
"protein_id": "XP_047277288.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 643,
"cds_start": 649,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.886G>C",
"hgvs_p": "p.Val296Leu",
"transcript": "XM_047421333.1",
"protein_id": "XP_047277289.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 641,
"cds_start": 886,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.802G>C",
"hgvs_p": "p.Val268Leu",
"transcript": "XM_047421334.1",
"protein_id": "XP_047277290.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 613,
"cds_start": 802,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Val158Leu",
"transcript": "XM_047421335.1",
"protein_id": "XP_047277291.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 584,
"cds_start": 472,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Val158Leu",
"transcript": "XM_047421336.1",
"protein_id": "XP_047277292.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 584,
"cds_start": 472,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Val158Leu",
"transcript": "XM_047421338.1",
"protein_id": "XP_047277294.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 584,
"cds_start": 472,
"cds_end": null,
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"cdna_start": 839,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Val158Leu",
"transcript": "XM_047421339.1",
"protein_id": "XP_047277295.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 584,
"cds_start": 472,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 928,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Val158Leu",
"transcript": "XM_047421340.1",
"protein_id": "XP_047277296.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 584,
"cds_start": 472,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Val158Leu",
"transcript": "XM_047421341.1",
"protein_id": "XP_047277297.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 584,
"cds_start": 472,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP1MT",
"gene_hgnc_id": 29787,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Val158Leu",
"transcript": "XM_047421342.1",
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}
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}