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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: 4-7772906-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=7772906&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AFAP1",
"hgnc_id": 24017,
"hgvs_c": "c.2167G>A",
"hgvs_p": "p.Val723Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001134647.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "AFAP1-AS1",
"hgnc_id": 28141,
"hgvs_c": "n.786C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000608442.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1437,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "4",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3076481819152832,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 814,
"aa_ref": "V",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7704,
"cdna_start": 2375,
"cds_end": null,
"cds_length": 2445,
"cds_start": 2167,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001134647.2",
"gene_hgnc_id": 24017,
"gene_symbol": "AFAP1",
"hgvs_c": "c.2167G>A",
"hgvs_p": "p.Val723Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000420658.6",
"protein_coding": true,
"protein_id": "NP_001128119.1",
"strand": false,
"transcript": "NM_001134647.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 814,
"aa_ref": "V",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7704,
"cdna_start": 2375,
"cds_end": null,
"cds_length": 2445,
"cds_start": 2167,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000420658.6",
"gene_hgnc_id": 24017,
"gene_symbol": "AFAP1",
"hgvs_c": "c.2167G>A",
"hgvs_p": "p.Val723Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001134647.2",
"protein_coding": true,
"protein_id": "ENSP00000410689.1",
"strand": false,
"transcript": "ENST00000420658.6",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 730,
"aa_ref": "V",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7244,
"cdna_start": 1915,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000360265.9",
"gene_hgnc_id": 24017,
"gene_symbol": "AFAP1",
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Val639Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353402.4",
"strand": false,
"transcript": "ENST00000360265.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6808,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000608442.2",
"gene_hgnc_id": 28141,
"gene_symbol": "AFAP1-AS1",
"hgvs_c": "n.786C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000608442.2",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 814,
"aa_ref": "V",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7498,
"cdna_start": 2383,
"cds_end": null,
"cds_length": 2445,
"cds_start": 2167,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000382543.4",
"gene_hgnc_id": 24017,
"gene_symbol": "AFAP1",
"hgvs_c": "c.2167G>A",
"hgvs_p": "p.Val723Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371983.3",
"strand": false,
"transcript": "ENST00000382543.4",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 748,
"aa_ref": "V",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7562,
"cdna_start": 2233,
"cds_end": null,
"cds_length": 2247,
"cds_start": 1969,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000934849.1",
"gene_hgnc_id": 24017,
"gene_symbol": "AFAP1",
"hgvs_c": "c.1969G>A",
"hgvs_p": "p.Val657Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604908.1",
"strand": false,
"transcript": "ENST00000934849.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 730,
"aa_ref": "V",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7475,
"cdna_start": 2145,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001371090.1",
"gene_hgnc_id": 24017,
"gene_symbol": "AFAP1",
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Val639Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358019.1",
"strand": false,
"transcript": "NM_001371090.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 730,
"aa_ref": "V",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8231,
"cdna_start": 2901,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001371091.1",
"gene_hgnc_id": 24017,
"gene_symbol": "AFAP1",
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Val639Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358020.1",
"strand": false,
"transcript": "NM_001371091.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 730,
"aa_ref": "V",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7452,
"cdna_start": 2123,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_198595.3",
"gene_hgnc_id": 24017,
"gene_symbol": "AFAP1",
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Val639Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_940997.1",
"strand": false,
"transcript": "NM_198595.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 730,
"aa_ref": "V",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7516,
"cdna_start": 2188,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000358461.6",
"gene_hgnc_id": 24017,
"gene_symbol": "AFAP1",
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Val639Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351245.2",
"strand": false,
"transcript": "ENST00000358461.6",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 670,
"aa_ref": "V",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7146,
"cdna_start": 1816,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1735,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000934850.1",
"gene_hgnc_id": 24017,
"gene_symbol": "AFAP1",
"hgvs_c": "c.1735G>A",
"hgvs_p": "p.Val579Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604909.1",
"strand": false,
"transcript": "ENST00000934850.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 814,
"aa_ref": "V",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7606,
"cdna_start": 2276,
"cds_end": null,
"cds_length": 2445,
"cds_start": 2167,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011513544.4",
"gene_hgnc_id": 24017,
"gene_symbol": "AFAP1",
"hgvs_c": "c.2167G>A",
"hgvs_p": "p.Val723Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511846.1",
"strand": false,
"transcript": "XM_011513544.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 751,
"aa_ref": "V",
"aa_start": 660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7445,
"cdna_start": 2115,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1978,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_006713909.4",
"gene_hgnc_id": 24017,
"gene_symbol": "AFAP1",
"hgvs_c": "c.1978G>A",
"hgvs_p": "p.Val660Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713972.1",
"strand": false,
"transcript": "XM_006713909.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 748,
"aa_ref": "V",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7301,
"cdna_start": 1971,
"cds_end": null,
"cds_length": 2247,
"cds_start": 1969,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_017008535.2",
"gene_hgnc_id": 24017,
"gene_symbol": "AFAP1",
"hgvs_c": "c.1969G>A",
"hgvs_p": "p.Val657Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864024.1",
"strand": false,
"transcript": "XM_017008535.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 736,
"aa_ref": "V",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7310,
"cdna_start": 1980,
"cds_end": null,
"cds_length": 2211,
"cds_start": 1933,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047416061.1",
"gene_hgnc_id": 24017,
"gene_symbol": "AFAP1",
"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Val645Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272017.1",
"strand": false,
"transcript": "XM_047416061.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1517,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000505447.5",
"gene_hgnc_id": 24017,
"gene_symbol": "AFAP1",
"hgvs_c": "n.696G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000505447.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000513842.1",
"gene_hgnc_id": 24017,
"gene_symbol": "AFAP1",
"hgvs_c": "n.1162G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000513842.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6795,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_026892.1",
"gene_hgnc_id": 28141,
"gene_symbol": "AFAP1-AS1",
"hgvs_c": "n.773C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_026892.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1292168593",
"effect": "missense_variant",
"frequency_reference_population": 6.840881e-7,
"gene_hgnc_id": 24017,
"gene_symbol": "AFAP1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84088e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.519,
"pos": 7772906,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.163,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001134647.2"
}
]
}