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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: 1-46930207-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46930207&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46930207,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000778.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1468C>T",
"hgvs_p": "p.Pro490Ser",
"transcript": "NM_000778.4",
"protein_id": "NP_000769.2",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 519,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310638.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000778.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1468C>T",
"hgvs_p": "p.Pro490Ser",
"transcript": "ENST00000310638.9",
"protein_id": "ENSP00000311095.4",
"transcript_support_level": 1,
"aa_start": 490,
"aa_end": null,
"aa_length": 519,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000778.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310638.9"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1579C>T",
"hgvs_p": "p.Pro527Ser",
"transcript": "ENST00000909039.1",
"protein_id": "ENSP00000579098.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 556,
"cds_start": 1579,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909039.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1492C>T",
"hgvs_p": "p.Pro498Ser",
"transcript": "ENST00000909036.1",
"protein_id": "ENSP00000579095.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 527,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909036.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1486C>T",
"hgvs_p": "p.Pro496Ser",
"transcript": "ENST00000909031.1",
"protein_id": "ENSP00000579090.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 525,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909031.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1459C>T",
"hgvs_p": "p.Pro487Ser",
"transcript": "ENST00000909028.1",
"protein_id": "ENSP00000579087.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 516,
"cds_start": 1459,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909028.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Pro484Ser",
"transcript": "ENST00000909041.1",
"protein_id": "ENSP00000579100.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 513,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909041.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.Pro480Ser",
"transcript": "ENST00000909056.1",
"protein_id": "ENSP00000579115.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 509,
"cds_start": 1438,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909056.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Pro475Ser",
"transcript": "ENST00000909035.1",
"protein_id": "ENSP00000579094.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 504,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909035.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Pro473Ser",
"transcript": "ENST00000909045.1",
"protein_id": "ENSP00000579104.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 502,
"cds_start": 1417,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909045.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1405C>T",
"hgvs_p": "p.Pro469Ser",
"transcript": "ENST00000909022.1",
"protein_id": "ENSP00000579081.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 498,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909022.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1402C>T",
"hgvs_p": "p.Pro468Ser",
"transcript": "ENST00000909027.1",
"protein_id": "ENSP00000579086.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 497,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909027.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1390C>T",
"hgvs_p": "p.Pro464Ser",
"transcript": "ENST00000909058.1",
"protein_id": "ENSP00000579117.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 493,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909058.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Pro458Ser",
"transcript": "NM_001319155.2",
"protein_id": "NP_001306084.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 487,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319155.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Pro458Ser",
"transcript": "ENST00000909023.1",
"protein_id": "ENSP00000579082.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 487,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909023.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Pro455Ser",
"transcript": "ENST00000909057.1",
"protein_id": "ENSP00000579116.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 484,
"cds_start": 1363,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909057.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1339C>T",
"hgvs_p": "p.Pro447Ser",
"transcript": "ENST00000909050.1",
"protein_id": "ENSP00000579109.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 476,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909050.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.Pro445Ser",
"transcript": "ENST00000909046.1",
"protein_id": "ENSP00000579105.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 474,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909046.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1321C>T",
"hgvs_p": "p.Pro441Ser",
"transcript": "ENST00000909037.1",
"protein_id": "ENSP00000579096.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 470,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909037.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1288C>T",
"hgvs_p": "p.Pro430Ser",
"transcript": "ENST00000909049.1",
"protein_id": "ENSP00000579108.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 459,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909049.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Pro421Ser",
"transcript": "ENST00000909029.1",
"protein_id": "ENSP00000579088.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 450,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909029.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Pro421Ser",
"transcript": "ENST00000909040.1",
"protein_id": "ENSP00000579099.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 450,
"cds_start": 1261,
"cds_end": null,
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],
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"allele_count_reference_population": 0,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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],
"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
}