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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: 22-37089684-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37089684&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 37089684,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000676104.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Lys244Glu",
"transcript": "NM_001374504.1",
"protein_id": "NP_001361433.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 802,
"cds_start": 730,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 3265,
"mane_select": "ENST00000676104.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Lys244Glu",
"transcript": "ENST00000676104.1",
"protein_id": "ENSP00000501573.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 802,
"cds_start": 730,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 3265,
"mane_select": "NM_001374504.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Lys244Glu",
"transcript": "ENST00000406856.7",
"protein_id": "ENSP00000384964.1",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 824,
"cds_start": 730,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 3331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Lys244Glu",
"transcript": "ENST00000346753.9",
"protein_id": "ENSP00000334962.6",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 802,
"cds_start": 730,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Lys244Glu",
"transcript": "ENST00000406725.6",
"protein_id": "ENSP00000385453.1",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 802,
"cds_start": 730,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 3125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Lys244Glu",
"transcript": "ENST00000442782.7",
"protein_id": "ENSP00000397691.3",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 452,
"cds_start": 730,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Lys244Glu",
"transcript": "NM_001289000.2",
"protein_id": "NP_001275929.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 824,
"cds_start": 730,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 3331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Lys244Glu",
"transcript": "ENST00000381792.6",
"protein_id": "ENSP00000371211.2",
"transcript_support_level": 5,
"aa_start": 244,
"aa_end": null,
"aa_length": 824,
"cds_start": 730,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Lys244Glu",
"transcript": "NM_001289001.2",
"protein_id": "NP_001275930.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 802,
"cds_start": 730,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 3153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Lys244Glu",
"transcript": "NM_153609.4",
"protein_id": "NP_705837.2",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 802,
"cds_start": 730,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 3197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Lys244Glu",
"transcript": "XM_024452167.2",
"protein_id": "XP_024307935.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 824,
"cds_start": 730,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Lys244Glu",
"transcript": "XM_024452168.2",
"protein_id": "XP_024307936.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 824,
"cds_start": 730,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.405-3265A>G",
"hgvs_p": null,
"transcript": "XM_011529989.3",
"protein_id": "XP_011528291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.405-3265A>G",
"hgvs_p": null,
"transcript": "XM_047441170.1",
"protein_id": "XP_047297126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"hgvs_c": "c.405-3265A>G",
"hgvs_p": null,
"transcript": "XM_047441171.1",
"protein_id": "XP_047297127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMPRSS6",
"gene_hgnc_id": 16517,
"dbsnp": "rs2235324",
"frequency_reference_population": 0.3897882,
"hom_count_reference_population": 123383,
"allele_count_reference_population": 628033,
"gnomad_exomes_af": 0.38899,
"gnomad_genomes_af": 0.397447,
"gnomad_exomes_ac": 567579,
"gnomad_genomes_ac": 60454,
"gnomad_exomes_homalt": 111170,
"gnomad_genomes_homalt": 12213,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00043895840644836426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.054,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.744,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000676104.1",
"gene_symbol": "TMPRSS6",
"hgnc_id": 16517,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Lys244Glu"
}
],
"clinvar_disease": "Iron-refractory iron deficiency anemia,Microcytic anemia,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Microcytic anemia|Iron-refractory iron deficiency anemia|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}