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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: 4-7763774-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=7763774&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 7763774,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001134647.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Asn812Asn",
"transcript": "NM_001134647.2",
"protein_id": "NP_001128119.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 814,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 7704,
"mane_select": "ENST00000420658.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134647.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Asn812Asn",
"transcript": "ENST00000420658.6",
"protein_id": "ENSP00000410689.1",
"transcript_support_level": 2,
"aa_start": 812,
"aa_end": null,
"aa_length": 814,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 7704,
"mane_select": "NM_001134647.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420658.6"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2184C>T",
"hgvs_p": "p.Asn728Asn",
"transcript": "ENST00000360265.9",
"protein_id": "ENSP00000353402.4",
"transcript_support_level": 1,
"aa_start": 728,
"aa_end": null,
"aa_length": 730,
"cds_start": 2184,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2184,
"cdna_end": null,
"cdna_length": 7244,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360265.9"
},
{
"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": "AFAP1-AS1",
"gene_hgnc_id": 28141,
"hgvs_c": "n.84-8430G>A",
"hgvs_p": null,
"transcript": "ENST00000608442.2",
"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": 6808,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000608442.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Asn812Asn",
"transcript": "ENST00000382543.4",
"protein_id": "ENSP00000371983.3",
"transcript_support_level": 5,
"aa_start": 812,
"aa_end": null,
"aa_length": 814,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2652,
"cdna_end": null,
"cdna_length": 7498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382543.4"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2238C>T",
"hgvs_p": "p.Asn746Asn",
"transcript": "ENST00000934849.1",
"protein_id": "ENSP00000604908.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 748,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2502,
"cdna_end": null,
"cdna_length": 7562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934849.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2184C>T",
"hgvs_p": "p.Asn728Asn",
"transcript": "NM_001371090.1",
"protein_id": "NP_001358019.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 730,
"cds_start": 2184,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 7475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371090.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2184C>T",
"hgvs_p": "p.Asn728Asn",
"transcript": "NM_001371091.1",
"protein_id": "NP_001358020.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 730,
"cds_start": 2184,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 3170,
"cdna_end": null,
"cdna_length": 8231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371091.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2184C>T",
"hgvs_p": "p.Asn728Asn",
"transcript": "NM_198595.3",
"protein_id": "NP_940997.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 730,
"cds_start": 2184,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2392,
"cdna_end": null,
"cdna_length": 7452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198595.3"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2184C>T",
"hgvs_p": "p.Asn728Asn",
"transcript": "ENST00000358461.6",
"protein_id": "ENSP00000351245.2",
"transcript_support_level": 2,
"aa_start": 728,
"aa_end": null,
"aa_length": 730,
"cds_start": 2184,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2457,
"cdna_end": null,
"cdna_length": 7516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358461.6"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2004C>T",
"hgvs_p": "p.Asn668Asn",
"transcript": "ENST00000934850.1",
"protein_id": "ENSP00000604909.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 670,
"cds_start": 2004,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2085,
"cdna_end": null,
"cdna_length": 7146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934850.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Asn812Asn",
"transcript": "XM_011513544.4",
"protein_id": "XP_011511846.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 814,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2545,
"cdna_end": null,
"cdna_length": 7606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513544.4"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2247C>T",
"hgvs_p": "p.Asn749Asn",
"transcript": "XM_006713909.4",
"protein_id": "XP_006713972.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 751,
"cds_start": 2247,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2384,
"cdna_end": null,
"cdna_length": 7445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713909.4"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2238C>T",
"hgvs_p": "p.Asn746Asn",
"transcript": "XM_017008535.2",
"protein_id": "XP_016864024.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 748,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 7301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008535.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2202C>T",
"hgvs_p": "p.Asn734Asn",
"transcript": "XM_047416061.1",
"protein_id": "XP_047272017.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 736,
"cds_start": 2202,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2249,
"cdna_end": null,
"cdna_length": 7310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416061.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "n.965C>T",
"hgvs_p": null,
"transcript": "ENST00000505447.5",
"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": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000505447.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "n.1431C>T",
"hgvs_p": null,
"transcript": "ENST00000513842.1",
"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": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000513842.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1-AS1",
"gene_hgnc_id": 28141,
"hgvs_c": "n.4667G>A",
"hgvs_p": null,
"transcript": "ENST00000674004.1",
"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": 5444,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000674004.1"
},
{
"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": "AFAP1-AS1",
"gene_hgnc_id": 28141,
"hgvs_c": "n.71-8430G>A",
"hgvs_p": null,
"transcript": "NR_026892.1",
"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": 6795,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_026892.1"
}
],
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"dbsnp": "rs114329356",
"frequency_reference_population": 0.0070599276,
"hom_count_reference_population": 42,
"allele_count_reference_population": 10954,
"gnomad_exomes_af": 0.00733774,
"gnomad_genomes_af": 0.00450622,
"gnomad_exomes_ac": 10268,
"gnomad_genomes_ac": 686,
"gnomad_exomes_homalt": 41,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.336,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.16,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001134647.2",
"gene_symbol": "AFAP1",
"hgnc_id": 24017,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2436C>T",
"hgvs_p": "p.Asn812Asn"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000674004.1",
"gene_symbol": "AFAP1-AS1",
"hgnc_id": 28141,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.4667G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}