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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: 7-143857296-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=143857296&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 143857296,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014719.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.2560A>G",
"hgvs_p": "p.Asn854Asp",
"transcript": "NM_014719.3",
"protein_id": "NP_055534.2",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 921,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2790,
"cdna_end": null,
"cdna_length": 5754,
"mane_select": "ENST00000479870.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014719.3"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.2560A>G",
"hgvs_p": "p.Asn854Asp",
"transcript": "ENST00000479870.6",
"protein_id": "ENSP00000419235.1",
"transcript_support_level": 1,
"aa_start": 854,
"aa_end": null,
"aa_length": 921,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2790,
"cdna_end": null,
"cdna_length": 5754,
"mane_select": "NM_014719.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479870.6"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.2560A>G",
"hgvs_p": "p.Asn854Asp",
"transcript": "ENST00000355951.2",
"protein_id": "ENSP00000348220.2",
"transcript_support_level": 1,
"aa_start": 854,
"aa_end": null,
"aa_length": 919,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2674,
"cdna_end": null,
"cdna_length": 3343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355951.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.2560A>G",
"hgvs_p": "p.Asn854Asp",
"transcript": "ENST00000872784.1",
"protein_id": "ENSP00000542843.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 921,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2737,
"cdna_end": null,
"cdna_length": 5712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872784.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.2560A>G",
"hgvs_p": "p.Asn854Asp",
"transcript": "ENST00000872785.1",
"protein_id": "ENSP00000542844.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 921,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2887,
"cdna_end": null,
"cdna_length": 4263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872785.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.2560A>G",
"hgvs_p": "p.Asn854Asp",
"transcript": "ENST00000872786.1",
"protein_id": "ENSP00000542845.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 921,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2970,
"cdna_end": null,
"cdna_length": 4228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872786.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.2560A>G",
"hgvs_p": "p.Asn854Asp",
"transcript": "ENST00000872787.1",
"protein_id": "ENSP00000542846.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 921,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2735,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872787.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.2560A>G",
"hgvs_p": "p.Asn854Asp",
"transcript": "ENST00000963297.1",
"protein_id": "ENSP00000633356.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 921,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2724,
"cdna_end": null,
"cdna_length": 5687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963297.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.2560A>G",
"hgvs_p": "p.Asn854Asp",
"transcript": "NM_001206938.2",
"protein_id": "NP_001193867.2",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 919,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2724,
"cdna_end": null,
"cdna_length": 5714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206938.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.1288A>G",
"hgvs_p": "p.Asn430Asp",
"transcript": "NM_001206941.2",
"protein_id": "NP_001193870.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 497,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 2101,
"cdna_end": null,
"cdna_length": 5065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206941.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.2560A>G",
"hgvs_p": "p.Asn854Asp",
"transcript": "XM_005250074.5",
"protein_id": "XP_005250131.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 921,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2724,
"cdna_end": null,
"cdna_length": 5688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250074.5"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.2560A>G",
"hgvs_p": "p.Asn854Asp",
"transcript": "XM_005250075.4",
"protein_id": "XP_005250132.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 921,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2735,
"cdna_end": null,
"cdna_length": 5699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250075.4"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.2560A>G",
"hgvs_p": "p.Asn854Asp",
"transcript": "XM_005250076.5",
"protein_id": "XP_005250133.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 921,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2691,
"cdna_end": null,
"cdna_length": 5655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250076.5"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.2560A>G",
"hgvs_p": "p.Asn854Asp",
"transcript": "XM_005250077.3",
"protein_id": "XP_005250134.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 921,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2868,
"cdna_end": null,
"cdna_length": 5832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250077.3"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "c.2560A>G",
"hgvs_p": "p.Asn854Asp",
"transcript": "XM_006716191.3",
"protein_id": "XP_006716254.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 921,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2677,
"cdna_end": null,
"cdna_length": 5641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716191.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"hgvs_c": "n.2002A>G",
"hgvs_p": null,
"transcript": "ENST00000392900.3",
"protein_id": null,
"transcript_support_level": 2,
"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": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000392900.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000309129",
"gene_hgnc_id": null,
"hgvs_c": "n.366+12794T>C",
"hgvs_p": null,
"transcript": "ENST00000838887.1",
"protein_id": null,
"transcript_support_level": null,
"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": 632,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000838887.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000309129",
"gene_hgnc_id": null,
"hgvs_c": "n.664-2812T>C",
"hgvs_p": null,
"transcript": "ENST00000838888.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000838888.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000309129",
"gene_hgnc_id": null,
"hgvs_c": "n.785-2812T>C",
"hgvs_p": null,
"transcript": "ENST00000838889.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000838889.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000309129",
"gene_hgnc_id": null,
"hgvs_c": "n.225-2812T>C",
"hgvs_p": null,
"transcript": "ENST00000838890.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000838890.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000309129",
"gene_hgnc_id": null,
"hgvs_c": "n.218-2812T>C",
"hgvs_p": null,
"transcript": "ENST00000838891.1",
"protein_id": null,
"transcript_support_level": null,
"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": 700,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000838891.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC112267988",
"gene_hgnc_id": null,
"hgvs_c": "n.4444-2812T>C",
"hgvs_p": null,
"transcript": "XR_007060571.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4545,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060571.1"
}
],
"gene_symbol": "TCAF1",
"gene_hgnc_id": 22201,
"dbsnp": "rs1378718673",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.00000732984,
"gnomad_genomes_af": 0.00000666791,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1059812605381012,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": 0.0889,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.98,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"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": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_014719.3",
"gene_symbol": "TCAF1",
"hgnc_id": 22201,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2560A>G",
"hgvs_p": "p.Asn854Asp"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000838887.1",
"gene_symbol": "ENSG00000309129",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.366+12794T>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_007060571.1",
"gene_symbol": "LOC112267988",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.4444-2812T>C",
"hgvs_p": null
}
],
"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
}