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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: 10-22316423-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=22316423&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COMMD3-BMI1",
"hgnc_id": 48326,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Glu2Asp",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001204062.2",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COMMD3",
"hgnc_id": 23332,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Glu2Asp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_012071.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 66,
"alphamissense_prediction": null,
"alphamissense_score": 0.3344,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.09,
"chr": "10",
"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": 0.09473654627799988,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 195,
"aa_ref": "E",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 926,
"cdna_start": 36,
"cds_end": null,
"cds_length": 588,
"cds_start": 6,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_012071.4",
"gene_hgnc_id": 23332,
"gene_symbol": "COMMD3",
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Glu2Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376836.8",
"protein_coding": true,
"protein_id": "NP_036203.1",
"strand": true,
"transcript": "NM_012071.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 195,
"aa_ref": "E",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 926,
"cdna_start": 36,
"cds_end": null,
"cds_length": 588,
"cds_start": 6,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000376836.8",
"gene_hgnc_id": 23332,
"gene_symbol": "COMMD3",
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Glu2Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012071.4",
"protein_coding": true,
"protein_id": "ENSP00000366032.3",
"strand": true,
"transcript": "ENST00000376836.8",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 469,
"aa_ref": "E",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1419,
"cdna_start": 15,
"cds_end": null,
"cds_length": 1410,
"cds_start": 6,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000602390.5",
"gene_hgnc_id": 48326,
"gene_symbol": "COMMD3-BMI1",
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Glu2Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473391.1",
"strand": true,
"transcript": "ENST00000602390.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2290,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000602574.5",
"gene_hgnc_id": 23332,
"gene_symbol": "COMMD3",
"hgvs_c": "n.38G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000602574.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 469,
"aa_ref": "E",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 36,
"cds_end": null,
"cds_length": 1410,
"cds_start": 6,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001204062.2",
"gene_hgnc_id": 48326,
"gene_symbol": "COMMD3-BMI1",
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Glu2Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001190991.1",
"strand": true,
"transcript": "NM_001204062.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 195,
"aa_ref": "E",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1170,
"cdna_start": 156,
"cds_end": null,
"cds_length": 588,
"cds_start": 6,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000860458.1",
"gene_hgnc_id": 23332,
"gene_symbol": "COMMD3",
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Glu2Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530517.1",
"strand": true,
"transcript": "ENST00000860458.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 192,
"aa_ref": "E",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 912,
"cdna_start": 34,
"cds_end": null,
"cds_length": 579,
"cds_start": 6,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860460.1",
"gene_hgnc_id": 23332,
"gene_symbol": "COMMD3",
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Glu2Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530519.1",
"strand": true,
"transcript": "ENST00000860460.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 177,
"aa_ref": "E",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 874,
"cdna_start": 38,
"cds_end": null,
"cds_length": 534,
"cds_start": 6,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000964928.1",
"gene_hgnc_id": 23332,
"gene_symbol": "COMMD3",
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Glu2Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634987.1",
"strand": true,
"transcript": "ENST00000964928.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 176,
"aa_ref": "E",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 757,
"cdna_start": 4,
"cds_end": null,
"cds_length": 531,
"cds_start": 3,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000444869.5",
"gene_hgnc_id": 23332,
"gene_symbol": "COMMD3",
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Glu1Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408982.1",
"strand": true,
"transcript": "ENST00000444869.5",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 176,
"aa_ref": "E",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 867,
"cdna_start": 34,
"cds_end": null,
"cds_length": 531,
"cds_start": 6,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860459.1",
"gene_hgnc_id": 23332,
"gene_symbol": "COMMD3",
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Glu2Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530518.1",
"strand": true,
"transcript": "ENST00000860459.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 162,
"aa_ref": "E",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 748,
"cdna_start": 7,
"cds_end": null,
"cds_length": 489,
"cds_start": 6,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000456711.5",
"gene_hgnc_id": 23332,
"gene_symbol": "COMMD3",
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Glu2Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394580.1",
"strand": true,
"transcript": "ENST00000456711.5",
"transcript_support_level": 3
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 158,
"aa_ref": "E",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 508,
"cdna_start": 36,
"cds_end": null,
"cds_length": 478,
"cds_start": 6,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000475460.6",
"gene_hgnc_id": 48326,
"gene_symbol": "COMMD3-BMI1",
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Glu2Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473382.1",
"strand": true,
"transcript": "ENST00000475460.6",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 156,
"aa_ref": "E",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 785,
"cdna_start": 15,
"cds_end": null,
"cds_length": 471,
"cds_start": 6,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000860461.1",
"gene_hgnc_id": 23332,
"gene_symbol": "COMMD3",
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Glu2Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530520.1",
"strand": true,
"transcript": "ENST00000860461.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1344,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000468179.6",
"gene_hgnc_id": 23332,
"gene_symbol": "COMMD3",
"hgvs_c": "n.25G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000468179.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 662,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000470045.1",
"gene_hgnc_id": 23332,
"gene_symbol": "COMMD3",
"hgvs_c": "n.9G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000470045.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1443,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000479958.6",
"gene_hgnc_id": 23332,
"gene_symbol": "COMMD3",
"hgvs_c": "n.15G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000479958.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 148,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 757,
"cdna_start": null,
"cds_end": null,
"cds_length": 447,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000448361.5",
"gene_hgnc_id": 23332,
"gene_symbol": "COMMD3",
"hgvs_c": "c.-24G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391237.1",
"strand": true,
"transcript": "ENST00000448361.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 108,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 329,
"cdna_start": null,
"cds_end": null,
"cds_length": 327,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000489125.2",
"gene_hgnc_id": 48326,
"gene_symbol": "COMMD3-BMI1",
"hgvs_c": "c.-10G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473495.1",
"strand": true,
"transcript": "ENST00000489125.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 745,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000417470.1",
"gene_hgnc_id": 48326,
"gene_symbol": "COMMD3-BMI1",
"hgvs_c": "n.-31G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000398759.2",
"strand": true,
"transcript": "ENST00000417470.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 605,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000463409.6",
"gene_hgnc_id": 48326,
"gene_symbol": "COMMD3-BMI1",
"hgvs_c": "n.-9G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000463409.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1407,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000463688.6",
"gene_hgnc_id": 23332,
"gene_symbol": "COMMD3",
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}