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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: 6-42232727-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=42232727&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 42232727,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000695948.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3268G>A",
"hgvs_p": "p.Gly1090Ser",
"transcript": "NM_001395490.1",
"protein_id": "NP_001382419.1",
"transcript_support_level": null,
"aa_start": 1090,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3268,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4059,
"cdna_end": null,
"cdna_length": 7844,
"mane_select": "ENST00000695948.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3268G>A",
"hgvs_p": "p.Gly1090Ser",
"transcript": "ENST00000695948.1",
"protein_id": "ENSP00000512293.1",
"transcript_support_level": null,
"aa_start": 1090,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3268,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4059,
"cdna_end": null,
"cdna_length": 7844,
"mane_select": "NM_001395490.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3292G>A",
"hgvs_p": "p.Gly1098Ser",
"transcript": "ENST00000541110.5",
"protein_id": "ENSP00000439689.1",
"transcript_support_level": 1,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3292,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 3861,
"cdna_end": null,
"cdna_length": 7646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3232G>A",
"hgvs_p": "p.Gly1078Ser",
"transcript": "ENST00000372922.8",
"protein_id": "ENSP00000362013.4",
"transcript_support_level": 1,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3232,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 3795,
"cdna_end": null,
"cdna_length": 7286,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "n.*2466G>A",
"hgvs_p": null,
"transcript": "ENST00000372917.9",
"protein_id": "ENSP00000362008.6",
"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": 3919,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "n.*2466G>A",
"hgvs_p": null,
"transcript": "ENST00000372917.9",
"protein_id": "ENSP00000362008.6",
"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": 3919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3292G>A",
"hgvs_p": "p.Gly1098Ser",
"transcript": "NM_001297573.2",
"protein_id": "NP_001284502.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3292,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4034,
"cdna_end": null,
"cdna_length": 7819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3232G>A",
"hgvs_p": "p.Gly1078Ser",
"transcript": "NM_001391983.1",
"protein_id": "NP_001378912.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3232,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 3815,
"cdna_end": null,
"cdna_length": 7600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3232G>A",
"hgvs_p": "p.Gly1078Ser",
"transcript": "NM_033502.4",
"protein_id": "NP_277037.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3232,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 3974,
"cdna_end": null,
"cdna_length": 7759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3232G>A",
"hgvs_p": "p.Gly1078Ser",
"transcript": "ENST00000695966.1",
"protein_id": "ENSP00000512292.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3232,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 3815,
"cdna_end": null,
"cdna_length": 7600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3019G>A",
"hgvs_p": "p.Gly1007Ser",
"transcript": "NM_001391984.1",
"protein_id": "NP_001378913.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3019,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3638,
"cdna_end": null,
"cdna_length": 7423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3019G>A",
"hgvs_p": "p.Gly1007Ser",
"transcript": "ENST00000340840.6",
"protein_id": "ENSP00000339438.2",
"transcript_support_level": 5,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3019,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3607,
"cdna_end": null,
"cdna_length": 4174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.2983G>A",
"hgvs_p": "p.Gly995Ser",
"transcript": "ENST00000354325.2",
"protein_id": "ENSP00000346285.2",
"transcript_support_level": 5,
"aa_start": 995,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2983,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3571,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3328G>A",
"hgvs_p": "p.Gly1110Ser",
"transcript": "XM_017011046.2",
"protein_id": "XP_016866535.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3328,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4119,
"cdna_end": null,
"cdna_length": 7904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3328G>A",
"hgvs_p": "p.Gly1110Ser",
"transcript": "XM_047419026.1",
"protein_id": "XP_047274982.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3328,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4169,
"cdna_end": null,
"cdna_length": 7954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3328G>A",
"hgvs_p": "p.Gly1110Ser",
"transcript": "XM_047419027.1",
"protein_id": "XP_047274983.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3328,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 3992,
"cdna_end": null,
"cdna_length": 7777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3328G>A",
"hgvs_p": "p.Gly1110Ser",
"transcript": "XM_047419028.1",
"protein_id": "XP_047274984.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3328,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 3985,
"cdna_end": null,
"cdna_length": 7770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3328G>A",
"hgvs_p": "p.Gly1110Ser",
"transcript": "XM_047419029.1",
"protein_id": "XP_047274985.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3328,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 3911,
"cdna_end": null,
"cdna_length": 7696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3328G>A",
"hgvs_p": "p.Gly1110Ser",
"transcript": "XM_047419030.1",
"protein_id": "XP_047274986.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3328,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 3942,
"cdna_end": null,
"cdna_length": 7727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3328G>A",
"hgvs_p": "p.Gly1110Ser",
"transcript": "XM_047419031.1",
"protein_id": "XP_047274987.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3328,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4035,
"cdna_end": null,
"cdna_length": 7820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3292G>A",
"hgvs_p": "p.Gly1098Ser",
"transcript": "XM_017011048.2",
"protein_id": "XP_016866537.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3292,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4083,
"cdna_end": null,
"cdna_length": 7868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3292G>A",
"hgvs_p": "p.Gly1098Ser",
"transcript": "XM_047419032.1",
"protein_id": "XP_047274988.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3292,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4133,
"cdna_end": null,
"cdna_length": 7918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
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{
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}