← Back to variant description
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: 6-31870936-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31870936&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SLC44A4",
"hgnc_id": 13941,
"hgvs_c": "c.813C>T",
"hgvs_p": "p.Tyr271Tyr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_025257.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 659622,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "6",
"clinvar_classification": "Benign",
"clinvar_disease": " autosomal dominant 72,Hearing loss,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5600000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 710,
"aa_ref": "Y",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": 830,
"cds_end": null,
"cds_length": 2133,
"cds_start": 813,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_025257.3",
"gene_hgnc_id": 13941,
"gene_symbol": "SLC44A4",
"hgvs_c": "c.813C>T",
"hgvs_p": "p.Tyr271Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000229729.11",
"protein_coding": true,
"protein_id": "NP_079533.2",
"strand": false,
"transcript": "NM_025257.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 710,
"aa_ref": "Y",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": 830,
"cds_end": null,
"cds_length": 2133,
"cds_start": 813,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000229729.11",
"gene_hgnc_id": 13941,
"gene_symbol": "SLC44A4",
"hgvs_c": "c.813C>T",
"hgvs_p": "p.Tyr271Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025257.3",
"protein_coding": true,
"protein_id": "ENSP00000229729.6",
"strand": false,
"transcript": "ENST00000229729.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 409,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1233,
"cdna_start": null,
"cds_end": null,
"cds_length": 1231,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000414427.1",
"gene_hgnc_id": 13941,
"gene_symbol": "SLC44A4",
"hgvs_c": "c.686+378C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398901.1",
"strand": false,
"transcript": "ENST00000414427.1",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 732,
"aa_ref": "Y",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2651,
"cdna_start": 830,
"cds_end": null,
"cds_length": 2199,
"cds_start": 813,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000882851.1",
"gene_hgnc_id": 13941,
"gene_symbol": "SLC44A4",
"hgvs_c": "c.813C>T",
"hgvs_p": "p.Tyr271Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552910.1",
"strand": false,
"transcript": "ENST00000882851.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 721,
"aa_ref": "Y",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2618,
"cdna_start": 830,
"cds_end": null,
"cds_length": 2166,
"cds_start": 813,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000882853.1",
"gene_hgnc_id": 13941,
"gene_symbol": "SLC44A4",
"hgvs_c": "c.813C>T",
"hgvs_p": "p.Tyr271Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552912.1",
"strand": false,
"transcript": "ENST00000882853.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 718,
"aa_ref": "Y",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2609,
"cdna_start": 830,
"cds_end": null,
"cds_length": 2157,
"cds_start": 813,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000882852.1",
"gene_hgnc_id": 13941,
"gene_symbol": "SLC44A4",
"hgvs_c": "c.813C>T",
"hgvs_p": "p.Tyr271Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552911.1",
"strand": false,
"transcript": "ENST00000882852.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 705,
"aa_ref": "Y",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2771,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 2118,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000882849.1",
"gene_hgnc_id": 13941,
"gene_symbol": "SLC44A4",
"hgvs_c": "c.798C>T",
"hgvs_p": "p.Tyr266Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552908.1",
"strand": false,
"transcript": "ENST00000882849.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 705,
"aa_ref": "Y",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": 867,
"cds_end": null,
"cds_length": 2118,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000882850.1",
"gene_hgnc_id": 13941,
"gene_symbol": "SLC44A4",
"hgvs_c": "c.798C>T",
"hgvs_p": "p.Tyr266Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552909.1",
"strand": false,
"transcript": "ENST00000882850.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 668,
"aa_ref": "Y",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2459,
"cdna_start": 704,
"cds_end": null,
"cds_length": 2007,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001178044.2",
"gene_hgnc_id": 13941,
"gene_symbol": "SLC44A4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Tyr229Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171515.1",
"strand": false,
"transcript": "NM_001178044.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 668,
"aa_ref": "Y",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2505,
"cdna_start": 753,
"cds_end": null,
"cds_length": 2007,
"cds_start": 687,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000375562.8",
"gene_hgnc_id": 13941,
"gene_symbol": "SLC44A4",
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Tyr229Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364712.4",
"strand": false,
"transcript": "ENST00000375562.8",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 634,
"aa_ref": "Y",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2637,
"cdna_start": 882,
"cds_end": null,
"cds_length": 1905,
"cds_start": 585,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001178045.2",
"gene_hgnc_id": 13941,
"gene_symbol": "SLC44A4",
"hgvs_c": "c.585C>T",
"hgvs_p": "p.Tyr195Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171516.1",
"strand": false,
"transcript": "NM_001178045.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 634,
"aa_ref": "Y",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2634,
"cdna_start": 882,
"cds_end": null,
"cds_length": 1905,
"cds_start": 585,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000544672.5",
"gene_hgnc_id": 13941,
"gene_symbol": "SLC44A4",
"hgvs_c": "c.585C>T",
"hgvs_p": "p.Tyr195Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444109.1",
"strand": false,
"transcript": "ENST00000544672.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 570,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2165,
"cdna_start": null,
"cds_end": null,
"cds_length": 1713,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925858.1",
"gene_hgnc_id": 13941,
"gene_symbol": "SLC44A4",
"hgvs_c": "c.617+538C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595917.1",
"strand": false,
"transcript": "ENST00000925858.1",
"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": 575,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000475563.1",
"gene_hgnc_id": 13941,
"gene_symbol": "SLC44A4",
"hgvs_c": "n.309C>T",
"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": "ENST00000475563.1",
"transcript_support_level": 4
},
{
"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": 655,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000479777.1",
"gene_hgnc_id": 13941,
"gene_symbol": "SLC44A4",
"hgvs_c": "n.267C>T",
"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": "ENST00000479777.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs494620",
"effect": "synonymous_variant",
"frequency_reference_population": 0.4090801,
"gene_hgnc_id": 13941,
"gene_symbol": "SLC44A4",
"gnomad_exomes_ac": 595644,
"gnomad_exomes_af": 0.407826,
"gnomad_exomes_homalt": 125068,
"gnomad_genomes_ac": 63978,
"gnomad_genomes_af": 0.421141,
"gnomad_genomes_homalt": 13732,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 138800,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided|Hearing loss, autosomal dominant 72",
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.18,
"pos": 31870936,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_025257.3"
}
]
}