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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: 1-42497129-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=42497129&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 42497129,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000657597.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.273A>T",
"hgvs_p": "p.Gln91His",
"transcript": "NM_001395517.1",
"protein_id": "NP_001382446.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 938,
"cds_start": 273,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 6683,
"mane_select": "ENST00000657597.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.273A>T",
"hgvs_p": "p.Gln91His",
"transcript": "ENST00000657597.2",
"protein_id": "ENSP00000499662.2",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 938,
"cds_start": 273,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 6683,
"mane_select": "NM_001395517.1",
"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": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "n.*250A>T",
"hgvs_p": null,
"transcript": "ENST00000477155.6",
"protein_id": "ENSP00000421479.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3653,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "n.333A>T",
"hgvs_p": null,
"transcript": "ENST00000507855.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "n.*250A>T",
"hgvs_p": null,
"transcript": "ENST00000477155.6",
"protein_id": "ENSP00000421479.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.201A>T",
"hgvs_p": "p.Gln67His",
"transcript": "ENST00000340612.6",
"protein_id": "ENSP00000340378.5",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 826,
"cds_start": 201,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.54A>T",
"hgvs_p": "p.Gln18His",
"transcript": "ENST00000671538.1",
"protein_id": "ENSP00000499316.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 796,
"cds_start": 54,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 55,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.273A>T",
"hgvs_p": "p.Gln91His",
"transcript": "NM_001395379.1",
"protein_id": "NP_001382308.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 752,
"cds_start": 273,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 6125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.273A>T",
"hgvs_p": "p.Gln91His",
"transcript": "NM_001395382.1",
"protein_id": "NP_001382311.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 710,
"cds_start": 273,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 5999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.273A>T",
"hgvs_p": "p.Gln91His",
"transcript": "NM_001395383.1",
"protein_id": "NP_001382312.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 710,
"cds_start": 273,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 5758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.273A>T",
"hgvs_p": "p.Gln91His",
"transcript": "NM_001395384.1",
"protein_id": "NP_001382313.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 710,
"cds_start": 273,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 6028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.273A>T",
"hgvs_p": "p.Gln91His",
"transcript": "NM_001395385.1",
"protein_id": "NP_001382314.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 710,
"cds_start": 273,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 5991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.273A>T",
"hgvs_p": "p.Gln91His",
"transcript": "ENST00000660083.1",
"protein_id": "ENSP00000499483.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 710,
"cds_start": 273,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.273A>T",
"hgvs_p": "p.Gln91His",
"transcript": "ENST00000664805.1",
"protein_id": "ENSP00000499336.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 710,
"cds_start": 273,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 2929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.273A>T",
"hgvs_p": "p.Gln91His",
"transcript": "ENST00000667205.1",
"protein_id": "ENSP00000499722.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 710,
"cds_start": 273,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.273A>T",
"hgvs_p": "p.Gln91His",
"transcript": "ENST00000668663.1",
"protein_id": "ENSP00000499699.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 710,
"cds_start": 273,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.273A>T",
"hgvs_p": "p.Gln91His",
"transcript": "ENST00000665176.1",
"protein_id": "ENSP00000499388.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 666,
"cds_start": 273,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.273A>T",
"hgvs_p": "p.Gln91His",
"transcript": "ENST00000654604.1",
"protein_id": "ENSP00000499713.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 502,
"cds_start": 273,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 1929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.273A>T",
"hgvs_p": "p.Gln91His",
"transcript": "ENST00000655164.1",
"protein_id": "ENSP00000499756.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 391,
"cds_start": 273,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.273A>T",
"hgvs_p": "p.Gln91His",
"transcript": "ENST00000671281.1",
"protein_id": "ENSP00000499366.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 391,
"cds_start": 273,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.273A>T",
"hgvs_p": "p.Gln91His",
"transcript": "ENST00000661864.1",
"protein_id": "ENSP00000499424.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 273,
"cds_start": 273,
"cds_end": null,
"cds_length": 822,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 1510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.165A>T",
"hgvs_p": "p.Gln55His",
"transcript": "ENST00000653735.1",
"protein_id": "ENSP00000499649.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 260,
"cds_start": 165,
"cds_end": null,
"cds_length": 784,
"cdna_start": 166,
"cdna_end": null,
"cdna_length": 785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.273A>T",
"hgvs_p": "p.Gln91His",
"transcript": "ENST00000670982.1",
"protein_id": "ENSP00000499317.1",
"transcript_support_level": null,
"aa_start": 91,
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