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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: 14-73300506-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73300506&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NUMB",
"hgnc_id": 8060,
"hgvs_c": "c.235-3221C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001005743.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 80836,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.95,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.949999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 651,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3604,
"cdna_start": null,
"cds_end": null,
"cds_length": 1956,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001005743.2",
"gene_hgnc_id": 8060,
"gene_symbol": "NUMB",
"hgvs_c": "c.235-3221C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000555238.6",
"protein_coding": true,
"protein_id": "NP_001005743.1",
"strand": false,
"transcript": "NM_001005743.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 651,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3604,
"cdna_start": null,
"cds_end": null,
"cds_length": 1956,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000555238.6",
"gene_hgnc_id": 8060,
"gene_symbol": "NUMB",
"hgvs_c": "c.235-3221C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001005743.2",
"protein_coding": true,
"protein_id": "ENSP00000451300.1",
"strand": false,
"transcript": "ENST00000555238.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 640,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3547,
"cdna_start": null,
"cds_end": null,
"cds_length": 1923,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000557597.5",
"gene_hgnc_id": 8060,
"gene_symbol": "NUMB",
"hgvs_c": "c.202-3221C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451117.1",
"strand": false,
"transcript": "ENST00000557597.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 603,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3453,
"cdna_start": null,
"cds_end": null,
"cds_length": 1812,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356296.8",
"gene_hgnc_id": 8060,
"gene_symbol": "NUMB",
"hgvs_c": "c.235-3221C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348644.4",
"strand": false,
"transcript": "ENST00000356296.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 603,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": null,
"cds_end": null,
"cds_length": 1812,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000555394.5",
"gene_hgnc_id": 8060,
"gene_symbol": "NUMB",
"hgvs_c": "c.235-3221C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451625.1",
"strand": false,
"transcript": "ENST00000555394.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 592,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3607,
"cdna_start": null,
"cds_end": null,
"cds_length": 1779,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554546.5",
"gene_hgnc_id": 8060,
"gene_symbol": "NUMB",
"hgvs_c": "c.202-3221C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452416.1",
"strand": false,
"transcript": "ENST00000554546.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 505,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1586,
"cdna_start": null,
"cds_end": null,
"cds_length": 1518,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000560335.5",
"gene_hgnc_id": 8060,
"gene_symbol": "NUMB",
"hgvs_c": "c.235-3221C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453209.1",
"strand": false,
"transcript": "ENST00000560335.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 494,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1553,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000555738.6",
"gene_hgnc_id": 8060,
"gene_symbol": "NUMB",
"hgvs_c": "c.202-3221C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452069.2",
"strand": false,
"transcript": "ENST00000555738.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
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"aa_length": 456,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1439,
"cdna_start": null,
"cds_end": null,
"cds_length": 1371,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000559312.5",
"gene_hgnc_id": 8060,
"gene_symbol": "NUMB",
"hgvs_c": "c.235-3221C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452888.1",
"strand": false,
"transcript": "ENST00000559312.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
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"aa_length": 445,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1406,
"cdna_start": null,
"cds_end": null,
"cds_length": 1338,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000554521.6",
"gene_hgnc_id": 8060,
"gene_symbol": "NUMB",
"hgvs_c": "c.202-3221C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000450817.2",
"strand": false,
"transcript": "ENST00000554521.6",
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},
{
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"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000554315.5",
"gene_hgnc_id": 8060,
"gene_symbol": "NUMB",
"hgvs_c": "n.403-3221C>T",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000554315.5",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
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"feature": "ENST00000925296.1",
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"protein_coding": true,
"protein_id": "ENSP00000595355.1",
"strand": false,
"transcript": "ENST00000925296.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000863629.1",
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"protein_id": "ENSP00000533688.1",
"strand": false,
"transcript": "ENST00000863629.1",
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},
{
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"cds_length": 1992,
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000863643.1",
"gene_hgnc_id": 8060,
"gene_symbol": "NUMB",
"hgvs_c": "c.202-3221C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000533702.1",
"strand": false,
"transcript": "ENST00000863643.1",
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},
{
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000355058.7",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000347169.3",
"strand": false,
"transcript": "ENST00000355058.7",
"transcript_support_level": 5
},
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"cds_start": null,
"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000863614.1",
"gene_hgnc_id": 8060,
"gene_symbol": "NUMB",
"hgvs_c": "c.235-3221C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000533673.1",
"strand": false,
"transcript": "ENST00000863614.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000863627.1",
"gene_hgnc_id": 8060,
"gene_symbol": "NUMB",
"hgvs_c": "c.235-3221C>T",
"hgvs_p": null,
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"protein_coding": true,
"protein_id": "ENSP00000533686.1",
"strand": false,
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},
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"consequences": [
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],
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"feature": "ENST00000863651.1",
"gene_hgnc_id": 8060,
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},
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],
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"feature": "ENST00000863652.1",
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},
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"consequences": [
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],
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"feature": "ENST00000863656.1",
"gene_hgnc_id": 8060,
"gene_symbol": "NUMB",
"hgvs_c": "c.235-3221C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000533715.1",
"strand": false,
"transcript": "ENST00000863656.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925290.1",
"gene_hgnc_id": 8060,
"gene_symbol": "NUMB",
"hgvs_c": "c.235-3221C>T",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595349.1",
"strand": false,
"transcript": "ENST00000925290.1",
"transcript_support_level": null
},
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