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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: 19-3941160-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=3941160&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NMRK2",
"hgnc_id": 17871,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001289117.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000289254",
"hgnc_id": null,
"hgvs_c": "n.145-8316G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000691552.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.1068,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10653072595596313,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 230,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1160,
"cdna_start": 809,
"cds_end": null,
"cds_length": 693,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_170678.3",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000168977.7",
"protein_coding": true,
"protein_id": "NP_733778.1",
"strand": true,
"transcript": "NM_170678.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 230,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1160,
"cdna_start": 809,
"cds_end": null,
"cds_length": 693,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000168977.7",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_170678.3",
"protein_coding": true,
"protein_id": "ENSP00000168977.1",
"strand": true,
"transcript": "ENST00000168977.7",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 235,
"aa_ref": "A",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 869,
"cdna_start": 565,
"cds_end": null,
"cds_length": 708,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000593949.1",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472581.1",
"strand": true,
"transcript": "ENST00000593949.1",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 249,
"aa_ref": "A",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 977,
"cdna_start": 625,
"cds_end": null,
"cds_length": 750,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000968742.1",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Ala181Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638801.1",
"strand": true,
"transcript": "ENST00000968742.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 238,
"aa_ref": "A",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 939,
"cdna_start": 592,
"cds_end": null,
"cds_length": 717,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000968744.1",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ala170Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638803.1",
"strand": true,
"transcript": "ENST00000968744.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 235,
"aa_ref": "A",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1175,
"cdna_start": 824,
"cds_end": null,
"cds_length": 708,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001289117.2",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276046.1",
"strand": true,
"transcript": "NM_001289117.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 235,
"aa_ref": "A",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1139,
"cdna_start": 790,
"cds_end": null,
"cds_length": 708,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000616156.4",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480091.1",
"strand": true,
"transcript": "ENST00000616156.4",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 235,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 932,
"cdna_start": 568,
"cds_end": null,
"cds_length": 708,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000968743.1",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638802.1",
"strand": true,
"transcript": "ENST00000968743.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 230,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1863,
"cdna_start": 847,
"cds_end": null,
"cds_length": 693,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000861808.1",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531867.1",
"strand": true,
"transcript": "ENST00000861808.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 230,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1189,
"cdna_start": 838,
"cds_end": null,
"cds_length": 693,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000861810.1",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531869.1",
"strand": true,
"transcript": "ENST00000861810.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 230,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1178,
"cdna_start": 829,
"cds_end": null,
"cds_length": 693,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000861811.1",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531870.1",
"strand": true,
"transcript": "ENST00000861811.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 230,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1066,
"cdna_start": 718,
"cds_end": null,
"cds_length": 693,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000861812.1",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531871.1",
"strand": true,
"transcript": "ENST00000861812.1",
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},
{
"aa_alt": "V",
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"aa_length": 230,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 693,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000913543.1",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583602.1",
"strand": true,
"transcript": "ENST00000913543.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 230,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1320,
"cdna_start": 799,
"cds_end": null,
"cds_length": 693,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913545.1",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583604.1",
"strand": true,
"transcript": "ENST00000913545.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 230,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1187,
"cdna_start": 836,
"cds_end": null,
"cds_length": 693,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913546.1",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583605.1",
"strand": true,
"transcript": "ENST00000913546.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 230,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1103,
"cdna_start": 755,
"cds_end": null,
"cds_length": 693,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913547.1",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ala162Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583606.1",
"strand": true,
"transcript": "ENST00000913547.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 211,
"aa_ref": "A",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 980,
"cdna_start": 631,
"cds_end": null,
"cds_length": 636,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000861813.1",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ala143Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531872.1",
"strand": true,
"transcript": "ENST00000861813.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 206,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 847,
"cdna_start": 496,
"cds_end": null,
"cds_length": 621,
"cds_start": 413,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001375467.2",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ala138Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362396.1",
"strand": true,
"transcript": "NM_001375467.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 206,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1442,
"cdna_start": 752,
"cds_end": null,
"cds_length": 621,
"cds_start": 413,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000861809.1",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ala138Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531868.1",
"strand": true,
"transcript": "ENST00000861809.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 206,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1585,
"cdna_start": 701,
"cds_end": null,
"cds_length": 621,
"cds_start": 413,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000913544.1",
"gene_hgnc_id": 17871,
"gene_symbol": "NMRK2",
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ala138Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583603.1",
"strand": true,
"transcript": "ENST00000913544.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 206,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1059,
"cdna_start": 708,
"cds_end": null,
"cds_length": 621,
"cds_start": 413,
"consequences": [
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