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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: 7-150793249-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150793249&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 150793249,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001101312.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Met",
"transcript": "NM_001101312.2",
"protein_id": "NP_001094782.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 270,
"cds_start": 439,
"cds_end": null,
"cds_length": 813,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 1115,
"mane_select": "ENST00000326442.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Met",
"transcript": "ENST00000326442.10",
"protein_id": "ENSP00000318409.5",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 270,
"cds_start": 439,
"cds_end": null,
"cds_length": 813,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 1115,
"mane_select": "NM_001101312.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Met",
"transcript": "ENST00000447204.6",
"protein_id": "ENSP00000410269.2",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 270,
"cds_start": 439,
"cds_end": null,
"cds_length": 813,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 1430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Val163Met",
"transcript": "NM_001362691.2",
"protein_id": "NP_001349620.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 286,
"cds_start": 487,
"cds_end": null,
"cds_length": 861,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Val163Met",
"transcript": "NM_001362692.2",
"protein_id": "NP_001349621.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 286,
"cds_start": 487,
"cds_end": null,
"cds_length": 861,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Met",
"transcript": "NM_001101311.2",
"protein_id": "NP_001094781.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 270,
"cds_start": 439,
"cds_end": null,
"cds_length": 813,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 1123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Met",
"transcript": "NM_014020.4",
"protein_id": "NP_054739.3",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 270,
"cds_start": 439,
"cds_end": null,
"cds_length": 813,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Met",
"transcript": "ENST00000429904.6",
"protein_id": "ENSP00000397810.2",
"transcript_support_level": 2,
"aa_start": 147,
"aa_end": null,
"aa_length": 270,
"cds_start": 439,
"cds_end": null,
"cds_length": 813,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 1206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Met",
"transcript": "ENST00000492607.5",
"protein_id": "ENSP00000419258.1",
"transcript_support_level": 5,
"aa_start": 147,
"aa_end": null,
"aa_length": 270,
"cds_start": 439,
"cds_end": null,
"cds_length": 813,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 1265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Met",
"transcript": "NM_001101314.2",
"protein_id": "NP_001094784.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 233,
"cds_start": 328,
"cds_end": null,
"cds_length": 702,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 1004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Met",
"transcript": "ENST00000450753.2",
"protein_id": "ENSP00000404831.2",
"transcript_support_level": 2,
"aa_start": 110,
"aa_end": null,
"aa_length": 233,
"cds_start": 328,
"cds_end": null,
"cds_length": 702,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 1006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Val219Met",
"transcript": "XM_047420258.1",
"protein_id": "XP_047276214.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 342,
"cds_start": 655,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 1399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Met",
"transcript": "XM_024446734.2",
"protein_id": "XP_024302502.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 270,
"cds_start": 439,
"cds_end": null,
"cds_length": 813,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 1072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Met",
"transcript": "XM_047420259.1",
"protein_id": "XP_047276215.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 270,
"cds_start": 439,
"cds_end": null,
"cds_length": 813,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Met",
"transcript": "XM_006715933.5",
"protein_id": "XP_006715996.2",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 233,
"cds_start": 328,
"cds_end": null,
"cds_length": 702,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMEM176B",
"gene_hgnc_id": 29596,
"dbsnp": "rs368696046",
"frequency_reference_population": 0.000029735871,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000266779,
"gnomad_genomes_af": 0.0000590838,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1433335542678833,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.146,
"revel_prediction": "Benign",
"alphamissense_score": 0.2001,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.028,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001101312.2",
"gene_symbol": "TMEM176B",
"hgnc_id": 29596,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Val147Met"
}
],
"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
}