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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: 2-58159478-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=58159478&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 58159478,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006296.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK2",
"gene_hgnc_id": 12719,
"hgvs_c": "c.1312A>C",
"hgvs_p": "p.Ser438Arg",
"transcript": "NM_006296.7",
"protein_id": "NP_006287.2",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 508,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 1773,
"mane_select": "ENST00000340157.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK2",
"gene_hgnc_id": 12719,
"hgvs_c": "c.1312A>C",
"hgvs_p": "p.Ser438Arg",
"transcript": "ENST00000340157.9",
"protein_id": "ENSP00000342381.4",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 508,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 1773,
"mane_select": "NM_006296.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK2",
"gene_hgnc_id": 12719,
"hgvs_c": "c.1312A>C",
"hgvs_p": "p.Ser438Arg",
"transcript": "ENST00000435505.6",
"protein_id": "ENSP00000408002.2",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 508,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK2",
"gene_hgnc_id": 12719,
"hgvs_c": "c.1243A>C",
"hgvs_p": "p.Ser415Arg",
"transcript": "ENST00000440705.6",
"protein_id": "ENSP00000398323.2",
"transcript_support_level": 1,
"aa_start": 415,
"aa_end": null,
"aa_length": 485,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 1676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK2",
"gene_hgnc_id": 12719,
"hgvs_c": "c.958A>C",
"hgvs_p": "p.Ser320Arg",
"transcript": "ENST00000412104.6",
"protein_id": "ENSP00000404156.3",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 390,
"cds_start": 958,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK2",
"gene_hgnc_id": 12719,
"hgvs_c": "n.*1269A>C",
"hgvs_p": null,
"transcript": "ENST00000432057.2",
"protein_id": "ENSP00000400006.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.*287T>G",
"hgvs_p": null,
"transcript": "NM_018062.4",
"protein_id": "NP_060532.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": "ENST00000233741.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.*287T>G",
"hgvs_p": null,
"transcript": "ENST00000233741.9",
"protein_id": "ENSP00000233741.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": "NM_018062.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.*287T>G",
"hgvs_p": null,
"transcript": "ENST00000403295.8",
"protein_id": "ENSP00000386097.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.*287T>G",
"hgvs_p": null,
"transcript": "ENST00000449070.6",
"protein_id": "ENSP00000401280.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK2",
"gene_hgnc_id": 12719,
"hgvs_c": "n.*1269A>C",
"hgvs_p": null,
"transcript": "ENST00000432057.2",
"protein_id": "ENSP00000400006.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK2",
"gene_hgnc_id": 12719,
"hgvs_c": "c.1312A>C",
"hgvs_p": "p.Ser438Arg",
"transcript": "NM_001130480.2",
"protein_id": "NP_001123952.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 508,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 1939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK2",
"gene_hgnc_id": 12719,
"hgvs_c": "c.1312A>C",
"hgvs_p": "p.Ser438Arg",
"transcript": "NM_001130481.2",
"protein_id": "NP_001123953.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 508,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK2",
"gene_hgnc_id": 12719,
"hgvs_c": "c.1312A>C",
"hgvs_p": "p.Ser438Arg",
"transcript": "NM_001288837.2",
"protein_id": "NP_001275766.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 508,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 2116,
"cdna_end": null,
"cdna_length": 2509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK2",
"gene_hgnc_id": 12719,
"hgvs_c": "c.1243A>C",
"hgvs_p": "p.Ser415Arg",
"transcript": "NM_001130482.2",
"protein_id": "NP_001123954.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 485,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK2",
"gene_hgnc_id": 12719,
"hgvs_c": "c.958A>C",
"hgvs_p": "p.Ser320Arg",
"transcript": "NM_001288836.1",
"protein_id": "NP_001275765.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 390,
"cds_start": 958,
"cds_end": null,
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"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 2076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK2",
"gene_hgnc_id": 12719,
"hgvs_c": "c.958A>C",
"hgvs_p": "p.Ser320Arg",
"transcript": "NM_001288839.2",
"protein_id": "NP_001275768.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 390,
"cds_start": 958,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 1703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK2",
"gene_hgnc_id": 12719,
"hgvs_c": "c.1312A>C",
"hgvs_p": "p.Ser438Arg",
"transcript": "XM_005264540.5",
"protein_id": "XP_005264597.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 508,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK2",
"gene_hgnc_id": 12719,
"hgvs_c": "c.1312A>C",
"hgvs_p": "p.Ser438Arg",
"transcript": "XM_011533092.4",
"protein_id": "XP_011531394.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 508,
"cds_start": 1312,
"cds_end": null,
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"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK2",
"gene_hgnc_id": 12719,
"hgvs_c": "c.958A>C",
"hgvs_p": "p.Ser320Arg",
"transcript": "XM_047445745.1",
"protein_id": "XP_047301701.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 390,
"cds_start": 958,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 1594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK2",
"gene_hgnc_id": 12719,
"hgvs_c": "c.958A>C",
"hgvs_p": "p.Ser320Arg",
"transcript": "XM_047445747.1",
"protein_id": "XP_047301703.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 390,
"cds_start": 958,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VRK2",
"gene_hgnc_id": 12719,
"hgvs_c": "c.958A>C",
"hgvs_p": "p.Ser320Arg",
"transcript": "XM_047445748.1",
"protein_id": "XP_047301704.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 390,
"cds_start": 958,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "n.*978T>G",
"hgvs_p": null,
"transcript": "ENST00000403676.6",
"protein_id": "ENSP00000384046.2",
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