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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: 10-73291243-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73291243&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 73291243,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001367801.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2432A>G",
"hgvs_p": "p.Lys811Arg",
"transcript": "NM_001367801.1",
"protein_id": "NP_001354730.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2432,
"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": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2432A>G",
"hgvs_p": "p.Lys811Arg",
"transcript": "ENST00000355577.9",
"protein_id": "ENSP00000347781.4",
"transcript_support_level": 5,
"aa_start": 811,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2432,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2222A>G",
"hgvs_p": "p.Lys741Arg",
"transcript": "NM_001350933.2",
"protein_id": "NP_001337862.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2222,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2222A>G",
"hgvs_p": "p.Lys741Arg",
"transcript": "ENST00000310715.8",
"protein_id": "ENSP00000310829.4",
"transcript_support_level": 5,
"aa_start": 741,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2222,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.1856A>G",
"hgvs_p": "p.Lys619Arg",
"transcript": "NM_001350934.2",
"protein_id": "NP_001337863.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 929,
"cds_start": 1856,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.1856A>G",
"hgvs_p": "p.Lys619Arg",
"transcript": "ENST00000686590.1",
"protein_id": "ENSP00000510588.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 929,
"cds_start": 1856,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.653A>G",
"hgvs_p": "p.Lys218Arg",
"transcript": "ENST00000433268.5",
"protein_id": "ENSP00000409527.1",
"transcript_support_level": 2,
"aa_start": 218,
"aa_end": null,
"aa_length": 498,
"cds_start": 653,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2498A>G",
"hgvs_p": "p.Lys833Arg",
"transcript": "XM_017015620.2",
"protein_id": "XP_016871109.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1143,
"cds_start": 2498,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2498A>G",
"hgvs_p": "p.Lys833Arg",
"transcript": "XM_047424551.1",
"protein_id": "XP_047280507.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1143,
"cds_start": 2498,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2495A>G",
"hgvs_p": "p.Lys832Arg",
"transcript": "XM_017015621.2",
"protein_id": "XP_016871110.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2495,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2495A>G",
"hgvs_p": "p.Lys832Arg",
"transcript": "XM_017015622.2",
"protein_id": "XP_016871111.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2495,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2432A>G",
"hgvs_p": "p.Lys811Arg",
"transcript": "XM_006717604.3",
"protein_id": "XP_006717667.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2432,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2432A>G",
"hgvs_p": "p.Lys811Arg",
"transcript": "XM_006717605.3",
"protein_id": "XP_006717668.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2432,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2432A>G",
"hgvs_p": "p.Lys811Arg",
"transcript": "XM_047424552.1",
"protein_id": "XP_047280508.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2432,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2417A>G",
"hgvs_p": "p.Lys806Arg",
"transcript": "XM_017015624.2",
"protein_id": "XP_016871113.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1116,
"cds_start": 2417,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2498A>G",
"hgvs_p": "p.Lys833Arg",
"transcript": "XM_017015625.2",
"protein_id": "XP_016871114.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2498,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2498A>G",
"hgvs_p": "p.Lys833Arg",
"transcript": "XM_017015626.2",
"protein_id": "XP_016871115.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1079,
"cds_start": 2498,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2288A>G",
"hgvs_p": "p.Lys763Arg",
"transcript": "XM_017015627.2",
"protein_id": "XP_016871116.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 1073,
"cds_start": 2288,
"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": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.1856A>G",
"hgvs_p": "p.Lys619Arg",
"transcript": "XM_006717610.3",
"protein_id": "XP_006717673.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 929,
"cds_start": 1856,
"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": "XM_006717610.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.1856A>G",
"hgvs_p": "p.Lys619Arg",
"transcript": "XM_006717611.5",
"protein_id": "XP_006717674.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 929,
"cds_start": 1856,
"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": "XM_006717611.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.1856A>G",
"hgvs_p": "p.Lys619Arg",
"transcript": "XM_011539212.3",
"protein_id": "XP_011537514.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 929,
"cds_start": 1856,
"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": "XM_011539212.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP70",
"gene_hgnc_id": 30726,
"hgvs_c": "c.2498A>G",
"hgvs_p": "p.Lys833Arg",
"transcript": "XM_047424553.1",
"protein_id": "XP_047280509.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 899,
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{
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{
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],
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],
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"dbsnp": "rs1045252285",
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"gnomad_exomes_af": 0.00000889294,
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"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06996485590934753,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.718,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.2,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_001367801.1",
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"effects": [
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],
"inheritance_mode": "AR",
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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
}