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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: 3-158122107-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=158122107&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 158122107,
"ref": "G",
"alt": "T",
"effect": "start_lost",
"transcript": "NM_001271838.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "NM_001271838.2",
"protein_id": "NP_001258767.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 334,
"cds_start": 3,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 140,
"cdna_end": null,
"cdna_length": 2597,
"mane_select": "ENST00000611884.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000611884.5",
"protein_id": "ENSP00000481697.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 334,
"cds_start": 3,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 140,
"cdna_end": null,
"cdna_length": 2597,
"mane_select": "NM_001271838.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000295930.7",
"protein_id": "ENSP00000295930.3",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 334,
"cds_start": 3,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000312179.10",
"protein_id": "ENSP00000308671.6",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 276,
"cds_start": 3,
"cds_end": null,
"cds_length": 831,
"cdna_start": 97,
"cdna_end": null,
"cdna_length": 1443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000683899.1",
"protein_id": "ENSP00000507514.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 342,
"cds_start": 3,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 128,
"cdna_end": null,
"cdna_length": 1614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000476899.6",
"protein_id": "ENSP00000419394.2",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 336,
"cds_start": 3,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 140,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "NM_016625.4",
"protein_id": "NP_057709.2",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 334,
"cds_start": 3,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 128,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000480820.5",
"protein_id": "ENSP00000420150.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 334,
"cds_start": 3,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 1410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000482822.3",
"protein_id": "ENSP00000420464.3",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 314,
"cds_start": 3,
"cds_end": null,
"cds_length": 945,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000683137.1",
"protein_id": "ENSP00000507909.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 314,
"cds_start": 3,
"cds_end": null,
"cds_length": 945,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000682164.1",
"protein_id": "ENSP00000508394.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 311,
"cds_start": 3,
"cds_end": null,
"cds_length": 936,
"cdna_start": 128,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000684604.1",
"protein_id": "ENSP00000507438.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 292,
"cds_start": 3,
"cds_end": null,
"cds_length": 879,
"cdna_start": 140,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000475278.6",
"protein_id": "ENSP00000417816.2",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 283,
"cds_start": 3,
"cds_end": null,
"cds_length": 852,
"cdna_start": 96,
"cdna_end": null,
"cdna_length": 1195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "NM_001271834.2",
"protein_id": "NP_001258763.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
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"cds_start": 3,
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"cdna_start": 114,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000464171.5",
"protein_id": "ENSP00000419794.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 276,
"cds_start": 3,
"cds_end": null,
"cds_length": 831,
"cdna_start": 128,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000471994.5",
"protein_id": "ENSP00000417302.1",
"transcript_support_level": 5,
"aa_start": 1,
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"cds_start": 3,
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"cdna_start": 161,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000494002.5",
"protein_id": "ENSP00000417690.1",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 163,
"cds_start": 3,
"cds_end": null,
"cds_length": 494,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "XM_047448275.1",
"protein_id": "XP_047304231.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 334,
"cds_start": 3,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "XM_047448273.1",
"protein_id": "XP_047304229.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "XM_047448274.1",
"protein_id": "XP_047304230.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
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"cds_start": 3,
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"cds_length": 573,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "n.80G>T",
"hgvs_p": null,
"transcript": "ENST00000468344.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "n.61G>T",
"hgvs_p": null,
"transcript": "ENST00000471911.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSRC1",
"gene_hgnc_id": 24152,
"hgvs_c": "n.3G>T",
"hgvs_p": null,
"transcript": "ENST00000480119.5",
"protein_id": "ENSP00000420018.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1335,
"mane_select": null,
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"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.178,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
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{
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"PP5"
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"verdict": "Pathogenic",
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],
"clinvar_disease": " autosomal recessive 70,Intellectual developmental disorder",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual developmental disorder, autosomal recessive 70",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}