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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: 6-7297978-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=7297978&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 7297978,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000244763.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR1",
"gene_hgnc_id": 11323,
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"transcript": "NM_003144.5",
"protein_id": "NP_003135.2",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 286,
"cds_start": 644,
"cds_end": null,
"cds_length": 861,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 9661,
"mane_select": "ENST00000244763.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR1",
"gene_hgnc_id": 11323,
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"transcript": "ENST00000244763.9",
"protein_id": "ENSP00000244763.4",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 286,
"cds_start": 644,
"cds_end": null,
"cds_length": 861,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 9661,
"mane_select": "NM_003144.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR1",
"gene_hgnc_id": 11323,
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"transcript": "ENST00000474597.5",
"protein_id": "ENSP00000418617.1",
"transcript_support_level": 5,
"aa_start": 215,
"aa_end": null,
"aa_length": 298,
"cds_start": 644,
"cds_end": null,
"cds_length": 897,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 1808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR1",
"gene_hgnc_id": 11323,
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"transcript": "ENST00000397511.6",
"protein_id": "ENSP00000380647.2",
"transcript_support_level": 5,
"aa_start": 215,
"aa_end": null,
"aa_length": 291,
"cds_start": 644,
"cds_end": null,
"cds_length": 876,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 3248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR1",
"gene_hgnc_id": 11323,
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"transcript": "ENST00000650389.1",
"protein_id": "ENSP00000497016.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 288,
"cds_start": 644,
"cds_end": null,
"cds_length": 867,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 1640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR1",
"gene_hgnc_id": 11323,
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"transcript": "ENST00000479365.5",
"protein_id": "ENSP00000417911.1",
"transcript_support_level": 5,
"aa_start": 215,
"aa_end": null,
"aa_length": 266,
"cds_start": 644,
"cds_end": null,
"cds_length": 801,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 1118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR1",
"gene_hgnc_id": 11323,
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val",
"transcript": "ENST00000462112.1",
"protein_id": "ENSP00000417290.1",
"transcript_support_level": 4,
"aa_start": 215,
"aa_end": null,
"aa_length": 265,
"cds_start": 644,
"cds_end": null,
"cds_length": 798,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 1094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR1",
"gene_hgnc_id": 11323,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"transcript": "NM_001292008.2",
"protein_id": "NP_001278937.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 218,
"cds_start": 440,
"cds_end": null,
"cds_length": 657,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 9457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR1",
"gene_hgnc_id": 11323,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"transcript": "ENST00000489567.5",
"protein_id": "ENSP00000420730.1",
"transcript_support_level": 3,
"aa_start": 147,
"aa_end": null,
"aa_length": 218,
"cds_start": 440,
"cds_end": null,
"cds_length": 657,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR1",
"gene_hgnc_id": 11323,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ala52Val",
"transcript": "ENST00000479485.5",
"protein_id": "ENSP00000419953.1",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 103,
"cds_start": 155,
"cds_end": null,
"cds_length": 312,
"cdna_start": 155,
"cdna_end": null,
"cdna_length": 640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ENSG00000238221",
"gene_hgnc_id": null,
"hgvs_c": "n.784G>A",
"hgvs_p": null,
"transcript": "ENST00000726207.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ENSG00000238221",
"gene_hgnc_id": null,
"hgvs_c": "n.464-607G>A",
"hgvs_p": null,
"transcript": "ENST00000379928.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ENSG00000238221",
"gene_hgnc_id": null,
"hgvs_c": "n.326-607G>A",
"hgvs_p": null,
"transcript": "ENST00000726208.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ENSG00000238221",
"gene_hgnc_id": null,
"hgvs_c": "n.425-607G>A",
"hgvs_p": null,
"transcript": "ENST00000726210.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SSR1",
"gene_hgnc_id": 11323,
"hgvs_c": "n.699+769C>T",
"hgvs_p": null,
"transcript": "NR_120448.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SSR1",
"gene_hgnc_id": 11323,
"dbsnp": "rs769720912",
"frequency_reference_population": 0.000014877705,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000157423,
"gnomad_genomes_af": 0.00000657358,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4161328375339508,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.153,
"revel_prediction": "Benign",
"alphamissense_score": 0.0974,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.675,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.07,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000244763.9",
"gene_symbol": "SSR1",
"hgnc_id": 11323,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ala215Val"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000726207.1",
"gene_symbol": "ENSG00000238221",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.784G>A",
"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
}