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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: 3-138498063-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=138498063&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 138498063,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001320599.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1700A>G",
"hgvs_p": "p.Gln567Arg",
"transcript": "NM_024491.4",
"protein_id": "NP_077817.2",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 597,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1871,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": "ENST00000264982.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024491.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1700A>G",
"hgvs_p": "p.Gln567Arg",
"transcript": "ENST00000264982.8",
"protein_id": "ENSP00000264982.3",
"transcript_support_level": 1,
"aa_start": 567,
"aa_end": null,
"aa_length": 597,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1871,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": "NM_024491.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264982.8"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1760A>G",
"hgvs_p": "p.Gln587Arg",
"transcript": "ENST00000882531.1",
"protein_id": "ENSP00000552590.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 617,
"cds_start": 1760,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882531.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1700A>G",
"hgvs_p": "p.Gln567Arg",
"transcript": "NM_001320599.2",
"protein_id": "NP_001307528.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 598,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1871,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320599.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1700A>G",
"hgvs_p": "p.Gln567Arg",
"transcript": "NM_001320598.2",
"protein_id": "NP_001307527.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 597,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1923,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320598.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1700A>G",
"hgvs_p": "p.Gln567Arg",
"transcript": "ENST00000484888.5",
"protein_id": "ENSP00000419231.1",
"transcript_support_level": 5,
"aa_start": 567,
"aa_end": null,
"aa_length": 597,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1887,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484888.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1700A>G",
"hgvs_p": "p.Gln567Arg",
"transcript": "ENST00000882532.1",
"protein_id": "ENSP00000552591.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 597,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882532.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1700A>G",
"hgvs_p": "p.Gln567Arg",
"transcript": "ENST00000882534.1",
"protein_id": "ENSP00000552593.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 597,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 2368,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882534.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1700A>G",
"hgvs_p": "p.Gln567Arg",
"transcript": "ENST00000882535.1",
"protein_id": "ENSP00000552594.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 597,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1985,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882535.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1700A>G",
"hgvs_p": "p.Gln567Arg",
"transcript": "ENST00000923052.1",
"protein_id": "ENSP00000593111.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 597,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 2404,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923052.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1700A>G",
"hgvs_p": "p.Gln567Arg",
"transcript": "ENST00000923053.1",
"protein_id": "ENSP00000593112.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 597,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1967,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923053.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1700A>G",
"hgvs_p": "p.Gln567Arg",
"transcript": "ENST00000968169.1",
"protein_id": "ENSP00000638228.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 597,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 2456,
"cdna_end": null,
"cdna_length": 3204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968169.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1700A>G",
"hgvs_p": "p.Gln567Arg",
"transcript": "ENST00000968170.1",
"protein_id": "ENSP00000638229.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 597,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1834,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968170.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.Gln566Arg",
"transcript": "ENST00000923048.1",
"protein_id": "ENSP00000593107.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 596,
"cds_start": 1697,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923048.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1697A>G",
"hgvs_p": "p.Gln566Arg",
"transcript": "ENST00000923049.1",
"protein_id": "ENSP00000593108.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 596,
"cds_start": 1697,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1865,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923049.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1646A>G",
"hgvs_p": "p.Gln549Arg",
"transcript": "NM_001288964.2",
"protein_id": "NP_001275893.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 579,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 2618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288964.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1646A>G",
"hgvs_p": "p.Gln549Arg",
"transcript": "ENST00000474781.5",
"protein_id": "ENSP00000419833.1",
"transcript_support_level": 2,
"aa_start": 549,
"aa_end": null,
"aa_length": 579,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1932,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474781.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1643A>G",
"hgvs_p": "p.Gln548Arg",
"transcript": "ENST00000923054.1",
"protein_id": "ENSP00000593113.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 578,
"cds_start": 1643,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1803,
"cdna_end": null,
"cdna_length": 2560,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923054.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1640A>G",
"hgvs_p": "p.Gln547Arg",
"transcript": "NM_001288965.2",
"protein_id": "NP_001275894.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 577,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288965.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Gln518Arg",
"transcript": "ENST00000882528.1",
"protein_id": "ENSP00000552587.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 548,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 2504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882528.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Gln518Arg",
"transcript": "ENST00000882530.1",
"protein_id": "ENSP00000552589.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 548,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1764,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882530.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1376A>G",
"hgvs_p": "p.Gln459Arg",
"transcript": "ENST00000923051.1",
"protein_id": "ENSP00000593110.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3468722105026245,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.2800000011920929,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.134,
"revel_prediction": "Benign",
"alphamissense_score": 0.1174,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.269,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.28,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001320599.2",
"gene_symbol": "CEP70",
"hgnc_id": 29972,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1700A>G",
"hgvs_p": "p.Gln567Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}