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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: 2-135641647-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=135641647&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 135641647,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001378107.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1331A>C",
"hgvs_p": "p.Tyr444Ser",
"transcript": "NM_001378107.1",
"protein_id": "NP_001365036.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1134,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683871.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378107.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1331A>C",
"hgvs_p": "p.Tyr444Ser",
"transcript": "ENST00000683871.1",
"protein_id": "ENSP00000506980.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1134,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378107.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683871.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1331A>C",
"hgvs_p": "p.Tyr444Ser",
"transcript": "ENST00000264160.8",
"protein_id": "ENSP00000264160.4",
"transcript_support_level": 1,
"aa_start": 444,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264160.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1087+2525A>C",
"hgvs_p": null,
"transcript": "ENST00000409478.5",
"protein_id": "ENSP00000386457.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 971,
"cds_start": null,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409478.5"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1331A>C",
"hgvs_p": "p.Tyr444Ser",
"transcript": "NM_001282798.2",
"protein_id": "NP_001269727.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1100,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282798.2"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1331A>C",
"hgvs_p": "p.Tyr444Ser",
"transcript": "NM_001354200.2",
"protein_id": "NP_001341129.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1100,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354200.2"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1331A>C",
"hgvs_p": "p.Tyr444Ser",
"transcript": "ENST00000409606.5",
"protein_id": "ENSP00000387010.1",
"transcript_support_level": 2,
"aa_start": 444,
"aa_end": null,
"aa_length": 1100,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409606.5"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1331A>C",
"hgvs_p": "p.Tyr444Ser",
"transcript": "ENST00000964911.1",
"protein_id": "ENSP00000634970.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1100,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964911.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1331A>C",
"hgvs_p": "p.Tyr444Ser",
"transcript": "NM_001354199.2",
"protein_id": "NP_001341128.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354199.2"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1331A>C",
"hgvs_p": "p.Tyr444Ser",
"transcript": "NM_015361.4",
"protein_id": "NP_056176.2",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015361.4"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1199A>C",
"hgvs_p": "p.Tyr400Ser",
"transcript": "ENST00000940062.1",
"protein_id": "ENSP00000610121.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1089,
"cds_start": 1199,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940062.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1283A>C",
"hgvs_p": "p.Tyr428Ser",
"transcript": "ENST00000869759.1",
"protein_id": "ENSP00000539818.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 1083,
"cds_start": 1283,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869759.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1199A>C",
"hgvs_p": "p.Tyr400Ser",
"transcript": "ENST00000869753.1",
"protein_id": "ENSP00000539812.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1056,
"cds_start": 1199,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869753.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1199A>C",
"hgvs_p": "p.Tyr400Ser",
"transcript": "ENST00000940059.1",
"protein_id": "ENSP00000610118.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1055,
"cds_start": 1199,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940059.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1163A>C",
"hgvs_p": "p.Tyr388Ser",
"transcript": "NM_001282800.2",
"protein_id": "NP_001269729.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 1044,
"cds_start": 1163,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282800.2"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1163A>C",
"hgvs_p": "p.Tyr388Ser",
"transcript": "ENST00000410054.5",
"protein_id": "ENSP00000386877.1",
"transcript_support_level": 2,
"aa_start": 388,
"aa_end": null,
"aa_length": 1044,
"cds_start": 1163,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410054.5"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1151A>C",
"hgvs_p": "p.Tyr384Ser",
"transcript": "ENST00000964913.1",
"protein_id": "ENSP00000634972.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 1039,
"cds_start": 1151,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964913.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1130A>C",
"hgvs_p": "p.Tyr377Ser",
"transcript": "ENST00000940066.1",
"protein_id": "ENSP00000610125.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 1033,
"cds_start": 1130,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940066.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1288+43A>C",
"hgvs_p": null,
"transcript": "ENST00000869757.1",
"protein_id": "ENSP00000539816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1037,
"cds_start": null,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869757.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1219+2525A>C",
"hgvs_p": null,
"transcript": "ENST00000940058.1",
"protein_id": "ENSP00000610117.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1015,
"cds_start": null,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940058.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1174+2525A>C",
"hgvs_p": null,
"transcript": "ENST00000940064.1",
"protein_id": "ENSP00000610123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1000,
"cds_start": null,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940064.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "R3HDM1",
"gene_hgnc_id": 9757,
"hgvs_c": "c.1171+2573A>C",
"hgvs_p": null,
"transcript": "ENST00000869756.1",
"protein_id": "ENSP00000539815.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 999,
"cds_start": null,
"cds_end": null,
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}