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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: 1-202729066-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=202729066&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 202729066,
"ref": "A",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001314042.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.4605T>A",
"hgvs_p": "p.Cys1535*",
"transcript": "NM_006618.5",
"protein_id": "NP_006609.3",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1544,
"cds_start": 4605,
"cds_end": null,
"cds_length": 4635,
"cdna_start": 4721,
"cdna_end": null,
"cdna_length": 9292,
"mane_select": "ENST00000367265.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006618.5"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.4605T>A",
"hgvs_p": "p.Cys1535*",
"transcript": "ENST00000367265.9",
"protein_id": "ENSP00000356234.3",
"transcript_support_level": 1,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1544,
"cds_start": 4605,
"cds_end": null,
"cds_length": 4635,
"cdna_start": 4721,
"cdna_end": null,
"cdna_length": 9292,
"mane_select": "NM_006618.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367265.9"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.4713T>A",
"hgvs_p": "p.Cys1571*",
"transcript": "ENST00000367264.7",
"protein_id": "ENSP00000356233.2",
"transcript_support_level": 1,
"aa_start": 1571,
"aa_end": null,
"aa_length": 1580,
"cds_start": 4713,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 4889,
"cdna_end": null,
"cdna_length": 6520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367264.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "n.2144T>A",
"hgvs_p": null,
"transcript": "ENST00000472822.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3806,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000472822.6"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.4713T>A",
"hgvs_p": "p.Cys1571*",
"transcript": "NM_001314042.2",
"protein_id": "NP_001300971.1",
"transcript_support_level": null,
"aa_start": 1571,
"aa_end": null,
"aa_length": 1580,
"cds_start": 4713,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 4829,
"cdna_end": null,
"cdna_length": 9400,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001314042.2"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.4623T>A",
"hgvs_p": "p.Cys1541*",
"transcript": "ENST00000949534.1",
"protein_id": "ENSP00000619593.1",
"transcript_support_level": null,
"aa_start": 1541,
"aa_end": null,
"aa_length": 1550,
"cds_start": 4623,
"cds_end": null,
"cds_length": 4653,
"cdna_start": 4767,
"cdna_end": null,
"cdna_length": 6421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949534.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.4599T>A",
"hgvs_p": "p.Cys1533*",
"transcript": "ENST00000939933.1",
"protein_id": "ENSP00000609992.1",
"transcript_support_level": null,
"aa_start": 1533,
"aa_end": null,
"aa_length": 1542,
"cds_start": 4599,
"cds_end": null,
"cds_length": 4629,
"cdna_start": 4778,
"cdna_end": null,
"cdna_length": 6440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939933.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.4590T>A",
"hgvs_p": "p.Cys1530*",
"transcript": "NM_001399817.1",
"protein_id": "NP_001386746.1",
"transcript_support_level": null,
"aa_start": 1530,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4590,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4706,
"cdna_end": null,
"cdna_length": 9277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399817.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.4590T>A",
"hgvs_p": "p.Cys1530*",
"transcript": "ENST00000648056.1",
"protein_id": "ENSP00000497113.1",
"transcript_support_level": null,
"aa_start": 1530,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4590,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4772,
"cdna_end": null,
"cdna_length": 6390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648056.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.4482T>A",
"hgvs_p": "p.Cys1494*",
"transcript": "ENST00000648469.1",
"protein_id": "ENSP00000497827.1",
"transcript_support_level": null,
"aa_start": 1494,
"aa_end": null,
"aa_length": 1503,
"cds_start": 4482,
"cds_end": null,
"cds_length": 4512,
"cdna_start": 4647,
"cdna_end": null,
"cdna_length": 5422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648469.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.4470T>A",
"hgvs_p": "p.Cys1490*",
"transcript": "NM_001347591.2",
"protein_id": "NP_001334520.1",
"transcript_support_level": null,
"aa_start": 1490,
"aa_end": null,
"aa_length": 1499,
"cds_start": 4470,
"cds_end": null,
"cds_length": 4500,
"cdna_start": 4586,
"cdna_end": null,
"cdna_length": 9157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347591.2"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.4470T>A",
"hgvs_p": "p.Cys1490*",
"transcript": "ENST00000650569.1",
"protein_id": "ENSP00000497671.1",
"transcript_support_level": null,
"aa_start": 1490,
"aa_end": null,
"aa_length": 1499,
"cds_start": 4470,
"cds_end": null,
"cds_length": 4500,
"cdna_start": 4581,
"cdna_end": null,
"cdna_length": 6202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650569.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.4464T>A",
"hgvs_p": "p.Cys1488*",
"transcript": "ENST00000939935.1",
"protein_id": "ENSP00000609994.1",
"transcript_support_level": null,
"aa_start": 1488,
"aa_end": null,
"aa_length": 1497,
"cds_start": 4464,
"cds_end": null,
"cds_length": 4494,
"cdna_start": 4579,
"cdna_end": null,
"cdna_length": 6240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939935.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.4446T>A",
"hgvs_p": "p.Cys1482*",
"transcript": "ENST00000939934.1",
"protein_id": "ENSP00000609993.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1491,
"cds_start": 4446,
"cds_end": null,
"cds_length": 4476,
"cdna_start": 4561,
"cdna_end": null,
"cdna_length": 6223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939934.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.4434T>A",
"hgvs_p": "p.Cys1478*",
"transcript": "ENST00000939938.1",
"protein_id": "ENSP00000609997.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1487,
"cds_start": 4434,
"cds_end": null,
"cds_length": 4464,
"cdna_start": 4549,
"cdna_end": null,
"cdna_length": 5185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939938.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.4263T>A",
"hgvs_p": "p.Cys1421*",
"transcript": "ENST00000939936.1",
"protein_id": "ENSP00000609995.1",
"transcript_support_level": null,
"aa_start": 1421,
"aa_end": null,
"aa_length": 1430,
"cds_start": 4263,
"cds_end": null,
"cds_length": 4293,
"cdna_start": 4378,
"cdna_end": null,
"cdna_length": 6039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939936.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.4233T>A",
"hgvs_p": "p.Cys1411*",
"transcript": "ENST00000939937.1",
"protein_id": "ENSP00000609996.1",
"transcript_support_level": null,
"aa_start": 1411,
"aa_end": null,
"aa_length": 1420,
"cds_start": 4233,
"cds_end": null,
"cds_length": 4263,
"cdna_start": 4349,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939937.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.4239T>A",
"hgvs_p": "p.Cys1413*",
"transcript": "XM_011509090.4",
"protein_id": "XP_011507392.1",
"transcript_support_level": null,
"aa_start": 1413,
"aa_end": null,
"aa_length": 1422,
"cds_start": 4239,
"cds_end": null,
"cds_length": 4269,
"cdna_start": 4832,
"cdna_end": null,
"cdna_length": 9403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509090.4"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.4239T>A",
"hgvs_p": "p.Cys1413*",
"transcript": "XM_011509091.3",
"protein_id": "XP_011507393.1",
"transcript_support_level": null,
"aa_start": 1413,
"aa_end": null,
"aa_length": 1422,
"cds_start": 4239,
"cds_end": null,
"cds_length": 4269,
"cdna_start": 4556,
"cdna_end": null,
"cdna_length": 9127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509091.3"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.4412T>A",
"hgvs_p": "p.Val1471Glu",
"transcript": "ENST00000649770.1",
"protein_id": "ENSP00000497288.1",
"transcript_support_level": null,
"aa_start": 1471,
"aa_end": null,
"aa_length": 1472,
"cds_start": 4412,
"cds_end": null,
"cds_length": 4419,
"cdna_start": 4528,
"cdna_end": null,
"cdna_length": 5919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649770.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.*584T>A",
"hgvs_p": null,
"transcript": "ENST00000648338.1",
"protein_id": "ENSP00000497564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1517,
"cds_start": null,
"cds_end": null,
"cds_length": 4554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648338.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5B",
"gene_hgnc_id": 18039,
"hgvs_c": "c.*388T>A",
"hgvs_p": null,
"transcript": "ENST00000648473.1",
"protein_id": "ENSP00000497743.1",
"transcript_support_level": null,
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}
],
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}