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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: 4-7763778-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=7763778&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 7763778,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001134647.2",
"consequences": [
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2432A>G",
"hgvs_p": "p.Lys811Arg",
"transcript": "NM_001134647.2",
"protein_id": "NP_001128119.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 814,
"cds_start": 2432,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000420658.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134647.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2432A>G",
"hgvs_p": "p.Lys811Arg",
"transcript": "ENST00000420658.6",
"protein_id": "ENSP00000410689.1",
"transcript_support_level": 2,
"aa_start": 811,
"aa_end": null,
"aa_length": 814,
"cds_start": 2432,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001134647.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420658.6"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2180A>G",
"hgvs_p": "p.Lys727Arg",
"transcript": "ENST00000360265.9",
"protein_id": "ENSP00000353402.4",
"transcript_support_level": 1,
"aa_start": 727,
"aa_end": null,
"aa_length": 730,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.84-8426T>C",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000608442.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2432A>G",
"hgvs_p": "p.Lys811Arg",
"transcript": "ENST00000382543.4",
"protein_id": "ENSP00000371983.3",
"transcript_support_level": 5,
"aa_start": 811,
"aa_end": null,
"aa_length": 814,
"cds_start": 2432,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382543.4"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2234A>G",
"hgvs_p": "p.Lys745Arg",
"transcript": "ENST00000934849.1",
"protein_id": "ENSP00000604908.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 748,
"cds_start": 2234,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934849.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2180A>G",
"hgvs_p": "p.Lys727Arg",
"transcript": "NM_001371090.1",
"protein_id": "NP_001358019.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 730,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371090.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2180A>G",
"hgvs_p": "p.Lys727Arg",
"transcript": "NM_001371091.1",
"protein_id": "NP_001358020.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 730,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371091.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2180A>G",
"hgvs_p": "p.Lys727Arg",
"transcript": "NM_198595.3",
"protein_id": "NP_940997.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 730,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198595.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2180A>G",
"hgvs_p": "p.Lys727Arg",
"transcript": "ENST00000358461.6",
"protein_id": "ENSP00000351245.2",
"transcript_support_level": 2,
"aa_start": 727,
"aa_end": null,
"aa_length": 730,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358461.6"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2000A>G",
"hgvs_p": "p.Lys667Arg",
"transcript": "ENST00000934850.1",
"protein_id": "ENSP00000604909.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 670,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934850.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"hgvs_c": "c.2432A>G",
"hgvs_p": "p.Lys811Arg",
"transcript": "XM_011513544.4",
"protein_id": "XP_011511846.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 814,
"cds_start": 2432,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513544.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2243A>G",
"hgvs_p": "p.Lys748Arg",
"transcript": "XM_006713909.4",
"protein_id": "XP_006713972.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 751,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713909.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2234A>G",
"hgvs_p": "p.Lys745Arg",
"transcript": "XM_017008535.2",
"protein_id": "XP_016864024.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 748,
"cds_start": 2234,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008535.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2198A>G",
"hgvs_p": "p.Lys733Arg",
"transcript": "XM_047416061.1",
"protein_id": "XP_047272017.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 736,
"cds_start": 2198,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.961A>G",
"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": null,
"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.1427A>G",
"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": null,
"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.4671T>C",
"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": null,
"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.71-8426T>C",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_026892.1"
}
],
"gene_symbol": "AFAP1",
"gene_hgnc_id": 24017,
"dbsnp": null,
"frequency_reference_population": 0.0000014291758,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000142918,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22754916548728943,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.27000001072883606,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.214,
"revel_prediction": "Benign",
"alphamissense_score": 0.1314,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.661,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.27,
"spliceai_max_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001134647.2",
"gene_symbol": "AFAP1",
"hgnc_id": 24017,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2432A>G",
"hgvs_p": "p.Lys811Arg"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000674004.1",
"gene_symbol": "AFAP1-AS1",
"hgnc_id": 28141,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.4671T>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
}