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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: 6-75240349-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=75240349&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COX7A2",
"hgnc_id": 2288,
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Val49Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -4,
"transcript": "NM_001865.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_score": -4,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0664,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"chr": "6",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03552520275115967,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 83,
"aa_ref": "V",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 462,
"cdna_start": 212,
"cds_end": null,
"cds_length": 252,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001366293.2",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Val49Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000684430.2",
"protein_coding": true,
"protein_id": "NP_001353222.1",
"strand": false,
"transcript": "NM_001366293.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 83,
"aa_ref": "V",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 462,
"cdna_start": 212,
"cds_end": null,
"cds_length": 252,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000684430.2",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Val49Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001366293.2",
"protein_coding": true,
"protein_id": "ENSP00000506727.1",
"strand": false,
"transcript": "ENST00000684430.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 115,
"aa_ref": "V",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 773,
"cdna_start": 420,
"cds_end": null,
"cds_length": 348,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000370089.6",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359106.2",
"strand": false,
"transcript": "ENST00000370089.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 129,
"aa_ref": "V",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 585,
"cdna_start": 335,
"cds_end": null,
"cds_length": 390,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899324.1",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Val95Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569383.1",
"strand": false,
"transcript": "ENST00000899324.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 115,
"aa_ref": "V",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 914,
"cdna_start": 552,
"cds_end": null,
"cds_length": 348,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000370081.6",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359098.2",
"strand": false,
"transcript": "ENST00000370081.6",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 108,
"aa_ref": "V",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 542,
"cdna_start": 212,
"cds_end": null,
"cds_length": 327,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000940720.1",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Val49Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610779.1",
"strand": false,
"transcript": "ENST00000940720.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 102,
"aa_ref": "V",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 366,
"cdna_start": 318,
"cds_end": null,
"cds_length": 310,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000377978.3",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421193.1",
"strand": false,
"transcript": "ENST00000377978.3",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 99,
"aa_ref": "V",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 507,
"cdna_start": 257,
"cds_end": null,
"cds_length": 300,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000940722.1",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Val65Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610781.1",
"strand": false,
"transcript": "ENST00000940722.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 91,
"aa_ref": "V",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 486,
"cdna_start": 212,
"cds_end": null,
"cds_length": 276,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000509698.6",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Val49Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425951.1",
"strand": false,
"transcript": "ENST00000509698.6",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 89,
"aa_ref": "V",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 473,
"cdna_start": 191,
"cds_end": null,
"cds_length": 270,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000940723.1",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Val49Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610782.1",
"strand": false,
"transcript": "ENST00000940723.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 83,
"aa_ref": "V",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 889,
"cdna_start": 527,
"cds_end": null,
"cds_length": 252,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001366292.3",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Val49Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353221.2",
"strand": false,
"transcript": "NM_001366292.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 83,
"aa_ref": "V",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 910,
"cdna_start": 660,
"cds_end": null,
"cds_length": 252,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001865.6",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Val49Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001856.3",
"strand": false,
"transcript": "NM_001865.6",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 82,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 465,
"cdna_start": 218,
"cds_end": null,
"cds_length": 249,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899321.1",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Val49Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569380.1",
"strand": false,
"transcript": "ENST00000899321.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 82,
"aa_ref": "V",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 577,
"cdna_start": 215,
"cds_end": null,
"cds_length": 249,
"cds_start": 142,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000940716.1",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Val48Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610775.1",
"strand": false,
"transcript": "ENST00000940716.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 81,
"aa_ref": "V",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 453,
"cdna_start": 209,
"cds_end": null,
"cds_length": 246,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899322.1",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Val49Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569381.1",
"strand": false,
"transcript": "ENST00000899322.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 81,
"aa_ref": "V",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 470,
"cdna_start": 218,
"cds_end": null,
"cds_length": 246,
"cds_start": 142,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000940717.1",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Val48Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610776.1",
"strand": false,
"transcript": "ENST00000940717.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 80,
"aa_ref": "V",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 460,
"cdna_start": 209,
"cds_end": null,
"cds_length": 243,
"cds_start": 142,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000940719.1",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Val48Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610778.1",
"strand": false,
"transcript": "ENST00000940719.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 79,
"aa_ref": "V",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 441,
"cdna_start": 191,
"cds_end": null,
"cds_length": 240,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899323.1",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Val45Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569382.1",
"strand": false,
"transcript": "ENST00000899323.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 78,
"aa_ref": "V",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 460,
"cdna_start": 212,
"cds_end": null,
"cds_length": 237,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000940718.1",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Val45Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610777.1",
"strand": false,
"transcript": "ENST00000940718.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 73,
"aa_ref": "V",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 432,
"cdna_start": 182,
"cds_end": null,
"cds_length": 222,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000940721.1",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Val39Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610780.1",
"strand": false,
"transcript": "ENST00000940721.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 61,
"aa_ref": "V",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 362,
"cdna_start": 88,
"cds_end": null,
"cds_length": 186,
"cds_start": 55,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000940724.1",
"gene_hgnc_id": 2288,
"gene_symbol": "COX7A2",
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Val19Ile",
"intron_rank": null,
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