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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: 10-73275535-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73275535&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 73275535,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001367801.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2794T>G",
"hgvs_p": "p.Tyr932Asp",
"transcript": "NM_001367801.1",
"protein_id": "NP_001354730.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2794,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355577.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367801.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2794T>G",
"hgvs_p": "p.Tyr932Asp",
"transcript": "ENST00000355577.9",
"protein_id": "ENSP00000347781.4",
"transcript_support_level": 5,
"aa_start": 932,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2794,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001367801.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355577.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "DNAJC9-AS1",
"gene_hgnc_id": 31432,
"hgvs_c": "n.1416A>C",
"hgvs_p": null,
"transcript": "ENST00000440197.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000440197.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2584T>G",
"hgvs_p": "p.Tyr862Asp",
"transcript": "NM_001350933.2",
"protein_id": "NP_001337862.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2584,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350933.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2584T>G",
"hgvs_p": "p.Tyr862Asp",
"transcript": "ENST00000310715.8",
"protein_id": "ENSP00000310829.4",
"transcript_support_level": 5,
"aa_start": 862,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2584,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310715.8"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2218T>G",
"hgvs_p": "p.Tyr740Asp",
"transcript": "NM_001350934.2",
"protein_id": "NP_001337863.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 929,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350934.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2218T>G",
"hgvs_p": "p.Tyr740Asp",
"transcript": "ENST00000686590.1",
"protein_id": "ENSP00000510588.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 929,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686590.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.1015T>G",
"hgvs_p": "p.Tyr339Asp",
"transcript": "ENST00000433268.5",
"protein_id": "ENSP00000409527.1",
"transcript_support_level": 2,
"aa_start": 339,
"aa_end": null,
"aa_length": 498,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433268.5"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2860T>G",
"hgvs_p": "p.Tyr954Asp",
"transcript": "XM_017015620.2",
"protein_id": "XP_016871109.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1143,
"cds_start": 2860,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015620.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2860T>G",
"hgvs_p": "p.Tyr954Asp",
"transcript": "XM_047424551.1",
"protein_id": "XP_047280507.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1143,
"cds_start": 2860,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424551.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2857T>G",
"hgvs_p": "p.Tyr953Asp",
"transcript": "XM_017015621.2",
"protein_id": "XP_016871110.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2857,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015621.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2857T>G",
"hgvs_p": "p.Tyr953Asp",
"transcript": "XM_017015622.2",
"protein_id": "XP_016871111.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2857,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015622.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2794T>G",
"hgvs_p": "p.Tyr932Asp",
"transcript": "XM_006717604.3",
"protein_id": "XP_006717667.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2794,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717604.3"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2794T>G",
"hgvs_p": "p.Tyr932Asp",
"transcript": "XM_006717605.3",
"protein_id": "XP_006717668.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2794,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717605.3"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2794T>G",
"hgvs_p": "p.Tyr932Asp",
"transcript": "XM_047424552.1",
"protein_id": "XP_047280508.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2794,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424552.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2782T>G",
"hgvs_p": "p.Tyr928Asp",
"transcript": "XM_017015623.2",
"protein_id": "XP_016871112.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2782,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015623.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2779T>G",
"hgvs_p": "p.Tyr927Asp",
"transcript": "XM_017015624.2",
"protein_id": "XP_016871113.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1116,
"cds_start": 2779,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015624.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2860T>G",
"hgvs_p": "p.Tyr954Asp",
"transcript": "XM_017015625.2",
"protein_id": "XP_016871114.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2860,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015625.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2860T>G",
"hgvs_p": "p.Tyr954Asp",
"transcript": "XM_017015626.2",
"protein_id": "XP_016871115.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1079,
"cds_start": 2860,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015626.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2650T>G",
"hgvs_p": "p.Tyr884Asp",
"transcript": "XM_017015627.2",
"protein_id": "XP_016871116.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1073,
"cds_start": 2650,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015627.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2455T>G",
"hgvs_p": "p.Tyr819Asp",
"transcript": "XM_017015629.2",
"protein_id": "XP_016871118.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2455,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015629.2"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2218T>G",
"hgvs_p": "p.Tyr740Asp",
"transcript": "XM_006717610.3",
"protein_id": "XP_006717673.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 929,
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"allele_count_reference_population": 0,
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"phylop100way_prediction": "Uncertain_significance",
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{
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"criteria": [
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"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001367801.1",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 3,
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"PP3"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "",
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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
}