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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: 7-29944013-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=29944013&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 29944013,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001145514.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Thr170Ala",
"transcript": "NM_014766.5",
"protein_id": "NP_055581.3",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 414,
"cds_start": 508,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000242059.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014766.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Thr170Ala",
"transcript": "ENST00000242059.10",
"protein_id": "ENSP00000242059.5",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 414,
"cds_start": 508,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014766.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242059.10"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Thr190Ala",
"transcript": "NM_001145514.1",
"protein_id": "NP_001138986.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 434,
"cds_start": 568,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145514.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Thr190Ala",
"transcript": "ENST00000434476.6",
"protein_id": "ENSP00000388942.1",
"transcript_support_level": 2,
"aa_start": 190,
"aa_end": null,
"aa_length": 434,
"cds_start": 568,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434476.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Thr170Ala",
"transcript": "NM_001145513.1",
"protein_id": "NP_001138985.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 414,
"cds_start": 508,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145513.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Thr170Ala",
"transcript": "ENST00000409497.5",
"protein_id": "ENSP00000386872.1",
"transcript_support_level": 2,
"aa_start": 170,
"aa_end": null,
"aa_length": 414,
"cds_start": 508,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409497.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Thr170Ala",
"transcript": "ENST00000426154.5",
"protein_id": "ENSP00000409068.1",
"transcript_support_level": 5,
"aa_start": 170,
"aa_end": null,
"aa_length": 414,
"cds_start": 508,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426154.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Thr170Ala",
"transcript": "ENST00000866205.1",
"protein_id": "ENSP00000536264.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 414,
"cds_start": 508,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866205.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Thr170Ala",
"transcript": "ENST00000866207.1",
"protein_id": "ENSP00000536266.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 414,
"cds_start": 508,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866207.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Thr170Ala",
"transcript": "ENST00000866209.1",
"protein_id": "ENSP00000536268.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 414,
"cds_start": 508,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866209.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Thr170Ala",
"transcript": "ENST00000866210.1",
"protein_id": "ENSP00000536269.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 414,
"cds_start": 508,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866210.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Thr170Ala",
"transcript": "ENST00000866211.1",
"protein_id": "ENSP00000536270.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 414,
"cds_start": 508,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866211.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Thr170Ala",
"transcript": "ENST00000955921.1",
"protein_id": "ENSP00000625980.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 413,
"cds_start": 508,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955921.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Thr170Ala",
"transcript": "ENST00000866206.1",
"protein_id": "ENSP00000536265.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 379,
"cds_start": 508,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866206.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Thr170Ala",
"transcript": "ENST00000866208.1",
"protein_id": "ENSP00000536267.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 349,
"cds_start": 508,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866208.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "NM_001145515.2",
"protein_id": "NP_001138987.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 346,
"cds_start": 304,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145515.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000425819.6",
"protein_id": "ENSP00000414245.2",
"transcript_support_level": 2,
"aa_start": 102,
"aa_end": null,
"aa_length": 346,
"cds_start": 304,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425819.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.508A>G",
"hgvs_p": "p.Thr170Ala",
"transcript": "ENST00000421434.5",
"protein_id": "ENSP00000413184.1",
"transcript_support_level": 3,
"aa_start": 170,
"aa_end": null,
"aa_length": 244,
"cds_start": 508,
"cds_end": null,
"cds_length": 737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421434.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "XM_047421085.1",
"protein_id": "XP_047277041.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 346,
"cds_start": 304,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421085.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.*84A>G",
"hgvs_p": null,
"transcript": "ENST00000438497.5",
"protein_id": "ENSP00000406289.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438497.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "n.*31A>G",
"hgvs_p": null,
"transcript": "ENST00000494620.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000494620.1"
}
],
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"dbsnp": "rs767230411",
"frequency_reference_population": 0.000056999404,
"hom_count_reference_population": 0,
"allele_count_reference_population": 92,
"gnomad_exomes_af": 0.0000608802,
"gnomad_genomes_af": 0.0000197156,
"gnomad_exomes_ac": 89,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8772543668746948,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.621,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2802,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001145514.1",
"gene_symbol": "SCRN1",
"hgnc_id": 22192,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Thr190Ala"
}
],
"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
}