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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: 7-142864981-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=142864981&ref=C&alt=T&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": "EPHB6",
"hgnc_id": 3396,
"hgvs_c": "c.949+232C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_004445.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 115797,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.96,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9599999785423279,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1022,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3999,
"cdna_start": null,
"cds_end": null,
"cds_length": 3069,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004445.6",
"gene_hgnc_id": 3396,
"gene_symbol": "EPHB6",
"hgvs_c": "c.949+232C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000652003.1",
"protein_coding": true,
"protein_id": "NP_004436.4",
"strand": true,
"transcript": "NM_004445.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1022,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3999,
"cdna_start": null,
"cds_end": null,
"cds_length": 3069,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652003.1",
"gene_hgnc_id": 3396,
"gene_symbol": "EPHB6",
"hgvs_c": "c.949+232C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004445.6",
"protein_coding": true,
"protein_id": "ENSP00000498670.1",
"strand": true,
"transcript": "ENST00000652003.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1022,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3436,
"cdna_start": null,
"cds_end": null,
"cds_length": 3069,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000422643.5",
"gene_hgnc_id": 3396,
"gene_symbol": "EPHB6",
"hgvs_c": "c.949+232C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404786.2",
"strand": true,
"transcript": "ENST00000422643.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1022,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4011,
"cdna_start": null,
"cds_end": null,
"cds_length": 3069,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000619012.4",
"gene_hgnc_id": 3396,
"gene_symbol": "EPHB6",
"hgvs_c": "c.949+232C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481994.1",
"strand": true,
"transcript": "ENST00000619012.4",
"transcript_support_level": 1
},
{
"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": 3224,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000611578.4",
"gene_hgnc_id": 3396,
"gene_symbol": "EPHB6",
"hgvs_c": "n.*126+232C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000477807.1",
"strand": true,
"transcript": "ENST00000611578.4",
"transcript_support_level": 1
},
{
"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": 3861,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000614832.4",
"gene_hgnc_id": 3396,
"gene_symbol": "EPHB6",
"hgvs_c": "n.*731+232C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000482735.1",
"strand": true,
"transcript": "ENST00000614832.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1022,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4171,
"cdna_start": null,
"cds_end": null,
"cds_length": 3069,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937289.1",
"gene_hgnc_id": 3396,
"gene_symbol": "EPHB6",
"hgvs_c": "c.949+232C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607348.1",
"strand": true,
"transcript": "ENST00000937289.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1022,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3881,
"cdna_start": null,
"cds_end": null,
"cds_length": 3069,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937291.1",
"gene_hgnc_id": 3396,
"gene_symbol": "EPHB6",
"hgvs_c": "c.949+232C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607350.1",
"strand": true,
"transcript": "ENST00000937291.1",
"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": 4163,
"cdna_start": null,
"cds_end": null,
"cds_length": 3069,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937292.1",
"gene_hgnc_id": 3396,
"gene_symbol": "EPHB6",
"hgvs_c": "c.949+232C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607351.1",
"strand": true,
"transcript": "ENST00000937292.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 3069,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940978.1",
"gene_hgnc_id": 3396,
"gene_symbol": "EPHB6",
"hgvs_c": "c.949+232C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611037.1",
"strand": true,
"transcript": "ENST00000940978.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000886648.1",
"gene_hgnc_id": 3396,
"gene_symbol": "EPHB6",
"hgvs_c": "c.949+232C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000556707.1",
"strand": true,
"transcript": "ENST00000886648.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000886651.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000556710.1",
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},
{
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"feature": "ENST00000886653.1",
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"protein_coding": true,
"protein_id": "ENSP00000556712.1",
"strand": true,
"transcript": "ENST00000886653.1",
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},
{
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"consequences": [
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],
"exon_count": 18,
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"feature": "ENST00000937293.1",
"gene_hgnc_id": 3396,
"gene_symbol": "EPHB6",
"hgvs_c": "c.949+232C>T",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000607352.1",
"strand": true,
"transcript": "ENST00000937293.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 21,
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"feature": "ENST00000886649.1",
"gene_hgnc_id": 3396,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000556708.1",
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"transcript": "ENST00000886649.1",
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},
{
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"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000886646.1",
"gene_hgnc_id": 3396,
"gene_symbol": "EPHB6",
"hgvs_c": "c.949+232C>T",
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"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000556706.1",
"strand": true,
"transcript": "ENST00000886646.1",
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},
{
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"cdna_length": 3780,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940977.1",
"gene_hgnc_id": 3396,
"gene_symbol": "EPHB6",
"hgvs_c": "c.949+232C>T",
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"mane_plus": null,
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"transcript": "ENST00000940977.1",
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},
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],
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"feature": "ENST00000886650.1",
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"strand": true,
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},
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],
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"feature": "ENST00000886652.1",
"gene_hgnc_id": 3396,
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"hgvs_c": "c.949+232C>T",
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},
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"cds_start": null,
"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000937290.1",
"gene_hgnc_id": 3396,
"gene_symbol": "EPHB6",
"hgvs_c": "c.949+232C>T",
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"intron_rank": 7,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607349.1",
"strand": true,
"transcript": "ENST00000937290.1",
"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": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940976.1",
"gene_hgnc_id": 3396,
"gene_symbol": "EPHB6",
"hgvs_c": "c.949+232C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000611035.1",
"strand": true,
"transcript": "ENST00000940976.1",
"transcript_support_level": null
},
{
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