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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: 20-10296973-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=10296973&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 10296973,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000254976.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "NM_130811.4",
"protein_id": "NP_570824.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": "ENST00000254976.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "ENST00000254976.7",
"protein_id": "ENSP00000254976.3",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": "NM_130811.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "ENST00000304886.6",
"protein_id": "ENSP00000307341.2",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 2050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "NM_001322902.2",
"protein_id": "NP_001309831.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "NM_001322903.2",
"protein_id": "NP_001309832.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "NM_001322904.2",
"protein_id": "NP_001309833.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "NM_001322905.2",
"protein_id": "NP_001309834.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "NM_001322906.2",
"protein_id": "NP_001309835.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "NM_001322907.2",
"protein_id": "NP_001309836.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "NM_001322908.2",
"protein_id": "NP_001309837.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 2231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "NM_001322909.2",
"protein_id": "NP_001309838.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "NM_001322910.2",
"protein_id": "NP_001309839.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "NM_001424415.1",
"protein_id": "NP_001411344.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "NM_001424416.1",
"protein_id": "NP_001411345.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "NM_003081.5",
"protein_id": "NP_003072.2",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "ENST00000685131.1",
"protein_id": "ENSP00000508837.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 2862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "ENST00000687785.1",
"protein_id": "ENSP00000510219.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 3016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "ENST00000689757.1",
"protein_id": "ENSP00000509312.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "ENST00000689858.1",
"protein_id": "ENSP00000510663.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "ENST00000690812.1",
"protein_id": "ENSP00000509287.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 2900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "ENST00000691161.1",
"protein_id": "ENSP00000510109.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 3068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "ENST00000691353.1",
"protein_id": "ENSP00000509759.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 330,
"cds_end": null,
"cds_length": 621,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP25",
"gene_hgnc_id": 11132,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "ENST00000691665.1",
"protein_id": "ENSP00000508541.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.54,
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000254976.7",
"gene_symbol": "SNAP25",
"hgnc_id": 11132,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
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{
"score": -20,
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"criteria": [
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"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000692436.3",
"gene_symbol": "SNAP25-AS1",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Congenital myasthenic syndrome 18,Inborn genetic diseases,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "Inborn genetic diseases|Congenital myasthenic syndrome 18|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}