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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: 17-62765520-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=62765520&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MARCHF10",
"hgnc_id": 26655,
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001288779.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 808,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3071,
"cdna_start": null,
"cds_end": null,
"cds_length": 2427,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_152598.4",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000311269.10",
"protein_coding": true,
"protein_id": "NP_689811.2",
"strand": false,
"transcript": "NM_152598.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 808,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3071,
"cdna_start": null,
"cds_end": null,
"cds_length": 2427,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000311269.10",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152598.4",
"protein_coding": true,
"protein_id": "ENSP00000311496.5",
"strand": false,
"transcript": "ENST00000311269.10",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 846,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3214,
"cdna_start": null,
"cds_end": null,
"cds_length": 2541,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000583600.5",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463080.1",
"strand": false,
"transcript": "ENST00000583600.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 808,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3057,
"cdna_start": null,
"cds_end": null,
"cds_length": 2427,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000456609.6",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416177.2",
"strand": false,
"transcript": "ENST00000456609.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 846,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": null,
"cds_end": null,
"cds_length": 2541,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001288779.2",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275708.1",
"strand": false,
"transcript": "NM_001288779.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 845,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": null,
"cds_end": null,
"cds_length": 2538,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858437.1",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528496.1",
"strand": false,
"transcript": "ENST00000858437.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 845,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3201,
"cdna_start": null,
"cds_end": null,
"cds_length": 2538,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948244.1",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618303.1",
"strand": false,
"transcript": "ENST00000948244.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 844,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3096,
"cdna_start": null,
"cds_end": null,
"cds_length": 2535,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948245.1",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618304.1",
"strand": false,
"transcript": "ENST00000948245.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 808,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3044,
"cdna_start": null,
"cds_end": null,
"cds_length": 2427,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001100875.3",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001094345.1",
"strand": false,
"transcript": "NM_001100875.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 808,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3132,
"cdna_start": null,
"cds_end": null,
"cds_length": 2427,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858438.1",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528497.1",
"strand": false,
"transcript": "ENST00000858438.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 799,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3405,
"cdna_start": null,
"cds_end": null,
"cds_length": 2400,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001288780.2",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275709.1",
"strand": false,
"transcript": "NM_001288780.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 799,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3338,
"cdna_start": null,
"cds_end": null,
"cds_length": 2400,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000544856.6",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443746.2",
"strand": false,
"transcript": "ENST00000544856.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 863,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "XM_005257095.4",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257152.2",
"strand": false,
"transcript": "XM_005257095.4",
"transcript_support_level": null
},
{
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"aa_length": 863,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": null,
"cds_end": null,
"cds_length": 2592,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005257096.3",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257153.2",
"strand": false,
"transcript": "XM_005257096.3",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3263,
"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "XM_005257097.3",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257154.2",
"strand": false,
"transcript": "XM_005257097.3",
"transcript_support_level": null
},
{
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"aa_length": 862,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3139,
"cdna_start": null,
"cds_end": null,
"cds_length": 2589,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005257098.4",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257155.2",
"strand": false,
"transcript": "XM_005257098.4",
"transcript_support_level": null
},
{
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"aa_length": 862,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3139,
"cdna_start": null,
"cds_end": null,
"cds_length": 2589,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011524435.3",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011522737.1",
"strand": false,
"transcript": "XM_011524435.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 3028,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
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"feature": "XM_005257100.4",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_005257157.2",
"strand": false,
"transcript": "XM_005257100.4",
"transcript_support_level": null
},
{
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
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"feature": "XM_011524436.2",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011522738.1",
"strand": false,
"transcript": "XM_011524436.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 2475,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005257102.4",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257159.2",
"strand": false,
"transcript": "XM_005257102.4",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 807,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3189,
"cdna_start": null,
"cds_end": null,
"cds_length": 2424,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011524437.3",
"gene_hgnc_id": 26655,
"gene_symbol": "MARCHF10",
"hgvs_c": "c.211-5514A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522739.1",
"strand": false,
"transcript": "XM_011524437.3",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
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