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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: 7-33367840-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=33367840&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 33367840,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001348041.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1767T>C",
"hgvs_p": "p.Thr589Thr",
"transcript": "NM_198428.3",
"protein_id": "NP_940820.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 887,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000242067.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198428.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1767T>C",
"hgvs_p": "p.Thr589Thr",
"transcript": "ENST00000242067.11",
"protein_id": "ENSP00000242067.6",
"transcript_support_level": 1,
"aa_start": 589,
"aa_end": null,
"aa_length": 887,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198428.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242067.11"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.465T>C",
"hgvs_p": "p.Thr155Thr",
"transcript": "ENST00000434373.3",
"protein_id": "ENSP00000388114.1",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 453,
"cds_start": 465,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434373.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "n.*528T>C",
"hgvs_p": null,
"transcript": "ENST00000433714.5",
"protein_id": "ENSP00000412159.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000433714.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "n.*528T>C",
"hgvs_p": null,
"transcript": "ENST00000433714.5",
"protein_id": "ENSP00000412159.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000433714.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1893T>C",
"hgvs_p": "p.Thr631Thr",
"transcript": "ENST00000942912.1",
"protein_id": "ENSP00000612971.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 929,
"cds_start": 1893,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942912.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1890T>C",
"hgvs_p": "p.Thr630Thr",
"transcript": "ENST00000671871.1",
"protein_id": "ENSP00000499908.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 928,
"cds_start": 1890,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671871.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1875T>C",
"hgvs_p": "p.Thr625Thr",
"transcript": "ENST00000942913.1",
"protein_id": "ENSP00000612972.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 923,
"cds_start": 1875,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942913.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1767T>C",
"hgvs_p": "p.Thr589Thr",
"transcript": "NM_001348041.4",
"protein_id": "NP_001334970.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 908,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348041.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1767T>C",
"hgvs_p": "p.Thr589Thr",
"transcript": "ENST00000673056.1",
"protein_id": "ENSP00000499989.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 908,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673056.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1767T>C",
"hgvs_p": "p.Thr589Thr",
"transcript": "NM_001348036.1",
"protein_id": "NP_001334965.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 887,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348036.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1767T>C",
"hgvs_p": "p.Thr589Thr",
"transcript": "NM_001348043.3",
"protein_id": "NP_001334972.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 886,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348043.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1767T>C",
"hgvs_p": "p.Thr589Thr",
"transcript": "ENST00000942907.1",
"protein_id": "ENSP00000612966.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 886,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942907.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1752T>C",
"hgvs_p": "p.Thr584Thr",
"transcript": "NM_001033605.2",
"protein_id": "NP_001028777.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 882,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033605.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1752T>C",
"hgvs_p": "p.Thr584Thr",
"transcript": "ENST00000355070.6",
"protein_id": "ENSP00000347182.2",
"transcript_support_level": 5,
"aa_start": 584,
"aa_end": null,
"aa_length": 882,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355070.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1767T>C",
"hgvs_p": "p.Thr589Thr",
"transcript": "NM_001362679.1",
"protein_id": "NP_001349608.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 871,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362679.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1767T>C",
"hgvs_p": "p.Thr589Thr",
"transcript": "ENST00000671952.1",
"protein_id": "ENSP00000500239.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 871,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671952.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Thr568Thr",
"transcript": "ENST00000942908.1",
"protein_id": "ENSP00000612967.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 866,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942908.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1662T>C",
"hgvs_p": "p.Thr554Thr",
"transcript": "NM_001033604.2",
"protein_id": "NP_001028776.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 852,
"cds_start": 1662,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033604.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1662T>C",
"hgvs_p": "p.Thr554Thr",
"transcript": "ENST00000396127.6",
"protein_id": "ENSP00000379433.2",
"transcript_support_level": 5,
"aa_start": 554,
"aa_end": null,
"aa_length": 852,
"cds_start": 1662,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396127.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1662T>C",
"hgvs_p": "p.Thr554Thr",
"transcript": "ENST00000672717.1",
"protein_id": "ENSP00000499835.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 852,
"cds_start": 1662,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672717.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"hgvs_c": "c.1662T>C",
"hgvs_p": "p.Thr554Thr",
"transcript": "ENST00000942909.1",
"protein_id": "ENSP00000612968.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 851,
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{
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{
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{
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{
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{
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{
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{
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"gene_symbol": "BBS9",
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],
"gene_symbol": "BBS9",
"gene_hgnc_id": 30000,
"dbsnp": "rs534722075",
"frequency_reference_population": 0.00021067137,
"hom_count_reference_population": 3,
"allele_count_reference_population": 340,
"gnomad_exomes_af": 0.000218946,
"gnomad_genomes_af": 0.000131284,
"gnomad_exomes_ac": 320,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.020999999716877937,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.116,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -18,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001348041.4",
"gene_symbol": "BBS9",
"hgnc_id": 30000,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1767T>C",
"hgvs_p": "p.Thr589Thr"
}
],
"clinvar_disease": "Bardet-Biedl syndrome,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Bardet-Biedl syndrome|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}