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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: 22-37073553-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37073553&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMPRSS6",
"hgnc_id": 16517,
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Asp512Asn",
"inheritance_mode": "AR",
"pathogenic_score": 16,
"score": 16,
"transcript": "NM_001289000.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PP3_Strong,PP5_Very_Strong",
"acmg_score": 16,
"allele_count_reference_population": 189,
"alphamissense_prediction": null,
"alphamissense_score": 0.6357,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.12,
"chr": "22",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Iron-refractory iron deficiency anemia,Microcytic anemia,TMPRSS6-related disorder",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.946169376373291,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 802,
"aa_ref": "D",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3265,
"cdna_start": 1746,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001374504.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Asp512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000676104.1",
"protein_coding": true,
"protein_id": "NP_001361433.1",
"strand": false,
"transcript": "NM_001374504.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 802,
"aa_ref": "D",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3265,
"cdna_start": 1746,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000676104.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Asp512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001374504.1",
"protein_coding": true,
"protein_id": "ENSP00000501573.1",
"strand": false,
"transcript": "ENST00000676104.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 824,
"aa_ref": "D",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3331,
"cdna_start": 1746,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000406856.7",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Asp512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384964.1",
"strand": false,
"transcript": "ENST00000406856.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 802,
"aa_ref": "D",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 1675,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000346753.9",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Asp512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334962.6",
"strand": false,
"transcript": "ENST00000346753.9",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 802,
"aa_ref": "D",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3125,
"cdna_start": 1606,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000406725.6",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Asp512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385453.1",
"strand": false,
"transcript": "ENST00000406725.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 847,
"aa_ref": "D",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3248,
"cdna_start": 1665,
"cds_end": null,
"cds_length": 2544,
"cds_start": 1603,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000862848.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Asp535Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532907.1",
"strand": false,
"transcript": "ENST00000862848.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 836,
"aa_ref": "D",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3206,
"cdna_start": 1689,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1636,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000862852.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1636G>A",
"hgvs_p": "p.Asp546Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532911.1",
"strand": false,
"transcript": "ENST00000862852.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 825,
"aa_ref": "D",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3329,
"cdna_start": 1812,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1603,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000862846.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Asp535Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532905.1",
"strand": false,
"transcript": "ENST00000862846.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 825,
"aa_ref": "D",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3231,
"cdna_start": 1715,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1603,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000862856.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Asp535Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532915.1",
"strand": false,
"transcript": "ENST00000862856.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 824,
"aa_ref": "D",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3331,
"cdna_start": 1746,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001289000.2",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Asp512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275929.1",
"strand": false,
"transcript": "NM_001289000.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 824,
"aa_ref": "D",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3260,
"cdna_start": 1675,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000381792.6",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Asp512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371211.2",
"strand": false,
"transcript": "ENST00000381792.6",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 824,
"aa_ref": "D",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3240,
"cdna_start": 1657,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862826.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Asp512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532884.1",
"strand": false,
"transcript": "ENST00000862826.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 824,
"aa_ref": "D",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3292,
"cdna_start": 1708,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862853.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Asp512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532912.1",
"strand": false,
"transcript": "ENST00000862853.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 813,
"aa_ref": "D",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": 1630,
"cds_end": null,
"cds_length": 2442,
"cds_start": 1567,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862835.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1567G>A",
"hgvs_p": "p.Asp523Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532894.1",
"strand": false,
"transcript": "ENST00000862835.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 812,
"aa_ref": "D",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3138,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 2439,
"cds_start": 1564,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862850.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Asp522Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532909.1",
"strand": false,
"transcript": "ENST00000862850.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 810,
"aa_ref": "D",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 1592,
"cds_end": null,
"cds_length": 2433,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862849.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Asp512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532908.1",
"strand": false,
"transcript": "ENST00000862849.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 802,
"aa_ref": "D",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3153,
"cdna_start": 1634,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001289001.2",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Asp512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275930.1",
"strand": false,
"transcript": "NM_001289001.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 802,
"aa_ref": "D",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3197,
"cdna_start": 1678,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_153609.4",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Asp512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_705837.2",
"strand": false,
"transcript": "NM_153609.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 802,
"aa_ref": "D",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3497,
"cdna_start": 1971,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862824.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Asp512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532883.1",
"strand": false,
"transcript": "ENST00000862824.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 802,
"aa_ref": "D",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3117,
"cdna_start": 1593,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862837.1",
"gene_hgnc_id": 16517,
"gene_symbol": "TMPRSS6",
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Asp512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532896.1",
"strand": false,
"transcript": "ENST00000862837.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 802,
"aa_ref": "D",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3355,
"cdna_start": 1838,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 19,
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"gnomad_exomes_ac": 177,
"gnomad_exomes_af": 0.000121114,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 12,
"gnomad_genomes_af": 0.0000787784,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely pathogenic",
"phenotype_combined": "Microcytic anemia|Iron-refractory iron deficiency anemia|TMPRSS6-related disorder",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.023,
"pos": 37073553,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.83,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.07999999821186066,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.08,
"transcript": "NM_001289000.2"
}
]
}