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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: 5-123383042-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=123383042&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 123383042,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000306467.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.1804C>G",
"hgvs_p": "p.Leu602Val",
"transcript": "NM_001375405.1",
"protein_id": "NP_001362334.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 986,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2209,
"cdna_end": null,
"cdna_length": 4993,
"mane_select": "ENST00000306467.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.1804C>G",
"hgvs_p": "p.Leu602Val",
"transcript": "ENST00000306467.10",
"protein_id": "ENSP00000303058.6",
"transcript_support_level": 5,
"aa_start": 602,
"aa_end": null,
"aa_length": 986,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2209,
"cdna_end": null,
"cdna_length": 4993,
"mane_select": "NM_001375405.1",
"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": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "n.*1376C>G",
"hgvs_p": null,
"transcript": "ENST00000508138.5",
"protein_id": "ENSP00000422234.1",
"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": 4720,
"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": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "n.*1014C>G",
"hgvs_p": null,
"transcript": "ENST00000513565.6",
"protein_id": "ENSP00000422089.2",
"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": 3973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "n.*1376C>G",
"hgvs_p": null,
"transcript": "ENST00000508138.5",
"protein_id": "ENSP00000422234.1",
"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": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "n.*1014C>G",
"hgvs_p": null,
"transcript": "ENST00000513565.6",
"protein_id": "ENSP00000422089.2",
"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": 3973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.1804C>G",
"hgvs_p": "p.Leu602Val",
"transcript": "NM_153223.4",
"protein_id": "NP_694955.2",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 986,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 4954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.1804C>G",
"hgvs_p": "p.Leu602Val",
"transcript": "ENST00000328236.10",
"protein_id": "ENSP00000327504.5",
"transcript_support_level": 5,
"aa_start": 602,
"aa_end": null,
"aa_length": 986,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 1886,
"cdna_end": null,
"cdna_length": 4667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.1726C>G",
"hgvs_p": "p.Leu576Val",
"transcript": "NM_001166226.2",
"protein_id": "NP_001159698.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 960,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 2089,
"cdna_end": null,
"cdna_length": 4873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.1726C>G",
"hgvs_p": "p.Leu576Val",
"transcript": "ENST00000306481.11",
"protein_id": "ENSP00000307419.6",
"transcript_support_level": 5,
"aa_start": 576,
"aa_end": null,
"aa_length": 960,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 1839,
"cdna_end": null,
"cdna_length": 4620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.1726C>G",
"hgvs_p": "p.Leu576Val",
"transcript": "ENST00000508442.7",
"protein_id": "ENSP00000421620.3",
"transcript_support_level": 2,
"aa_start": 576,
"aa_end": null,
"aa_length": 960,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 2254,
"cdna_end": null,
"cdna_length": 5035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.1726C>G",
"hgvs_p": "p.Leu576Val",
"transcript": "ENST00000675442.1",
"protein_id": "ENSP00000502221.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 953,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 2254,
"cdna_end": null,
"cdna_length": 5014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.1669C>G",
"hgvs_p": "p.Leu557Val",
"transcript": "NM_001375406.1",
"protein_id": "NP_001362335.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 941,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 4858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.1669C>G",
"hgvs_p": "p.Leu557Val",
"transcript": "ENST00000675330.1",
"protein_id": "ENSP00000502634.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 941,
"cds_start": 1669,
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"cds_length": 2826,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 4873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.1804C>G",
"hgvs_p": "p.Leu602Val",
"transcript": "NM_001375407.1",
"protein_id": "NP_001362336.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 928,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2209,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.1804C>G",
"hgvs_p": "p.Leu602Val",
"transcript": "ENST00000674684.1",
"protein_id": "ENSP00000501697.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 928,
"cds_start": 1804,
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"cds_length": 2787,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 5051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Leu411Val",
"transcript": "NM_001375408.1",
"protein_id": "NP_001362337.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 795,
"cds_start": 1231,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2345,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Leu411Val",
"transcript": "NM_001375409.1",
"protein_id": "NP_001362338.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 795,
"cds_start": 1231,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 5110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.1726C>G",
"hgvs_p": "p.Leu576Val",
"transcript": "XM_011543185.3",
"protein_id": "XP_011541487.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 960,
"cds_start": 1726,
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"cdna_start": 2153,
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"cdna_length": 4937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.1591C>G",
"hgvs_p": "p.Leu531Val",
"transcript": "XM_047416803.1",
"protein_id": "XP_047272759.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 915,
"cds_start": 1591,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2020,
"cdna_end": null,
"cdna_length": 4804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.337C>G",
"hgvs_p": "p.Leu113Val",
"transcript": "XM_017009085.2",
"protein_id": "XP_016864574.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 497,
"cds_start": 337,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 3243,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "n.1859C>G",
"hgvs_p": null,
"transcript": "ENST00000503049.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 2513,
"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": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "n.*1155C>G",
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"phenotype_combined": "Short-rib thoracic dysplasia 13 with or without polydactyly|not provided",
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}
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}