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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: 3-169084974-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=169084974&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Moderate",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MECOM",
"hgnc_id": 3498,
"hgvs_c": "c.3655G>A",
"hgvs_p": "p.Val1219Met",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_004991.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BS1,BS2",
"acmg_score": -10,
"allele_count_reference_population": 24,
"alphamissense_prediction": null,
"alphamissense_score": 0.0705,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07233333587646484,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "V",
"aa_start": 1219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5462,
"cdna_start": 3995,
"cds_end": null,
"cds_length": 3720,
"cds_start": 3655,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_004991.4",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.3655G>A",
"hgvs_p": "p.Val1219Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651503.2",
"protein_coding": true,
"protein_id": "NP_004982.2",
"strand": false,
"transcript": "NM_004991.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "V",
"aa_start": 1219,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5462,
"cdna_start": 3995,
"cds_end": null,
"cds_length": 3720,
"cds_start": 3655,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000651503.2",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.3655G>A",
"hgvs_p": "p.Val1219Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004991.4",
"protein_coding": true,
"protein_id": "ENSP00000498411.1",
"strand": false,
"transcript": "ENST00000651503.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1116,
"aa_ref": "V",
"aa_start": 1096,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4900,
"cdna_start": 3425,
"cds_end": null,
"cds_length": 3351,
"cds_start": 3286,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000264674.7",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.3286G>A",
"hgvs_p": "p.Val1096Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000264674.3",
"strand": false,
"transcript": "ENST00000264674.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1052,
"aa_ref": "V",
"aa_start": 1032,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3508,
"cdna_start": 3408,
"cds_end": null,
"cds_length": 3159,
"cds_start": 3094,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000433243.6",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.3094G>A",
"hgvs_p": "p.Val1032Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394302.2",
"strand": false,
"transcript": "ENST00000433243.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1051,
"aa_ref": "V",
"aa_start": 1031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4835,
"cdna_start": 3360,
"cds_end": null,
"cds_length": 3156,
"cds_start": 3091,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000628990.2",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.3091G>A",
"hgvs_p": "p.Val1031Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486104.1",
"strand": false,
"transcript": "ENST00000628990.2",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "V",
"aa_start": 1022,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5732,
"cdna_start": 4265,
"cds_end": null,
"cds_length": 3129,
"cds_start": 3064,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000464456.5",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.3064G>A",
"hgvs_p": "p.Val1022Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419770.1",
"strand": false,
"transcript": "ENST00000464456.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1003,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3374,
"cdna_start": null,
"cds_end": null,
"cds_length": 3012,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000460814.5",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.*105G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420466.1",
"strand": false,
"transcript": "ENST00000460814.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1230,
"aa_ref": "V",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5435,
"cdna_start": 3968,
"cds_end": null,
"cds_length": 3693,
"cds_start": 3628,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001366466.2",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.3628G>A",
"hgvs_p": "p.Val1210Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353395.1",
"strand": false,
"transcript": "NM_001366466.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1230,
"aa_ref": "V",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4244,
"cdna_start": 4031,
"cds_end": null,
"cds_length": 3693,
"cds_start": 3628,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000494292.6",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.3628G>A",
"hgvs_p": "p.Val1210Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417899.1",
"strand": false,
"transcript": "ENST00000494292.6",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1116,
"aa_ref": "V",
"aa_start": 1096,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4892,
"cdna_start": 3425,
"cds_end": null,
"cds_length": 3351,
"cds_start": 3286,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001105077.4",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.3286G>A",
"hgvs_p": "p.Val1096Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001098547.3",
"strand": false,
"transcript": "NM_001105077.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1052,
"aa_ref": "V",
"aa_start": 1032,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5499,
"cdna_start": 4032,
"cds_end": null,
"cds_length": 3159,
"cds_start": 3094,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001366467.2",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.3094G>A",
"hgvs_p": "p.Val1032Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353396.1",
"strand": false,
"transcript": "NM_001366467.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1052,
"aa_ref": "V",
"aa_start": 1032,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4813,
"cdna_start": 3346,
"cds_end": null,
"cds_length": 3159,
"cds_start": 3094,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001366468.2",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.3094G>A",
"hgvs_p": "p.Val1032Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353397.1",
"strand": false,
"transcript": "NM_001366468.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 1052,
"aa_ref": "V",
"aa_start": 1032,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3593,
"cdna_start": 3363,
"cds_end": null,
"cds_length": 3159,
"cds_start": 3094,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000472280.5",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.3094G>A",
"hgvs_p": "p.Val1032Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420048.1",
"strand": false,
"transcript": "ENST00000472280.5",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1051,
"aa_ref": "V",
"aa_start": 1031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4810,
"cdna_start": 3343,
"cds_end": null,
"cds_length": 3156,
"cds_start": 3091,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001105078.4",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.3091G>A",
"hgvs_p": "p.Val1031Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001098548.2",
"strand": false,
"transcript": "NM_001105078.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 1051,
"aa_ref": "V",
"aa_start": 1031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5124,
"cdna_start": 3657,
"cds_end": null,
"cds_length": 3156,
"cds_start": 3091,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001205194.2",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.3091G>A",
"hgvs_p": "p.Val1031Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001192123.1",
"strand": false,
"transcript": "NM_001205194.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1051,
"aa_ref": "V",
"aa_start": 1031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5496,
"cdna_start": 4029,
"cds_end": null,
"cds_length": 3156,
"cds_start": 3091,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001366469.2",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.3091G>A",
"hgvs_p": "p.Val1031Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353398.1",
"strand": false,
"transcript": "NM_001366469.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1051,
"aa_ref": "V",
"aa_start": 1031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4827,
"cdna_start": 3360,
"cds_end": null,
"cds_length": 3156,
"cds_start": 3091,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_005241.4",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.3091G>A",
"hgvs_p": "p.Val1031Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005232.2",
"strand": false,
"transcript": "NM_005241.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 1051,
"aa_ref": "V",
"aa_start": 1031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3691,
"cdna_start": 3479,
"cds_end": null,
"cds_length": 3156,
"cds_start": 3091,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000468789.5",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.3091G>A",
"hgvs_p": "p.Val1031Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419995.1",
"strand": false,
"transcript": "ENST00000468789.5",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "V",
"aa_start": 1023,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4803,
"cdna_start": 3336,
"cds_end": null,
"cds_length": 3132,
"cds_start": 3067,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001163999.2",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.3067G>A",
"hgvs_p": "p.Val1023Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157471.1",
"strand": false,
"transcript": "NM_001163999.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "V",
"aa_start": 1023,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5472,
"cdna_start": 4005,
"cds_end": null,
"cds_length": 3132,
"cds_start": 3067,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001366470.2",
"gene_hgnc_id": 3498,
"gene_symbol": "MECOM",
"hgvs_c": "c.3067G>A",
"hgvs_p": "p.Val1023Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353399.1",
"strand": false,
"transcript": "NM_001366470.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "V",
"aa_start": 1022,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5469,
"cdna_start": 4002,
"cds_end": null,
"cds_length": 3129,
"cds_start": 3064,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
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