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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: 2-157770468-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=157770468&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ACVR1",
"hgnc_id": 171,
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_001105.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_score": -19,
"allele_count_reference_population": 1575943,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "2",
"clinvar_classification": "Benign",
"clinvar_disease": "Progressive myositis ossificans,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.36000001430511475,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3332,
"cdna_start": 1407,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001111067.4",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000434821.7",
"protein_coding": true,
"protein_id": "NP_001104537.1",
"strand": false,
"transcript": "NM_001111067.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3332,
"cdna_start": 1407,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000434821.7",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001111067.4",
"protein_coding": true,
"protein_id": "ENSP00000405004.1",
"strand": false,
"transcript": "ENST00000434821.7",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3047,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000263640.7",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000263640.3",
"strand": false,
"transcript": "ENST00000263640.7",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2084,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000410057.6",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387127.2",
"strand": false,
"transcript": "ENST00000410057.6",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001105.5",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001096.1",
"strand": false,
"transcript": "NM_001105.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2918,
"cdna_start": 993,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001347663.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334592.1",
"strand": false,
"transcript": "NM_001347663.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2983,
"cdna_start": 1058,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001347664.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334593.1",
"strand": false,
"transcript": "NM_001347664.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2951,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001347665.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334594.1",
"strand": false,
"transcript": "NM_001347665.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3011,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001347666.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334595.1",
"strand": false,
"transcript": "NM_001347666.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3306,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001347667.2",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334596.1",
"strand": false,
"transcript": "NM_001347667.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2879,
"cdna_start": 957,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000409283.6",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387273.2",
"strand": false,
"transcript": "ENST00000409283.6",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2876,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000424669.6",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400767.2",
"strand": false,
"transcript": "ENST00000424669.6",
"transcript_support_level": 4
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 1036,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000539637.6",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440091.2",
"strand": false,
"transcript": "ENST00000539637.6",
"transcript_support_level": 4
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 1044,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000672582.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500605.1",
"strand": false,
"transcript": "ENST00000672582.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 1044,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000673324.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500109.1",
"strand": false,
"transcript": "ENST00000673324.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3313,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000682025.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507086.1",
"strand": false,
"transcript": "ENST00000682025.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3460,
"cdna_start": 1340,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000682300.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507102.1",
"strand": false,
"transcript": "ENST00000682300.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3009,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000683441.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508189.1",
"strand": false,
"transcript": "ENST00000683441.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3341,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000683487.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507113.1",
"strand": false,
"transcript": "ENST00000683487.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3100,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000683820.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507727.1",
"strand": false,
"transcript": "ENST00000683820.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 509,
"aa_ref": "E",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2921,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1530,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000684348.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Glu230Glu",
"intron_rank": null,
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