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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: 3-183270618-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=183270618&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 183270618,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032047.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT5",
"gene_hgnc_id": 15684,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Thr274Ala",
"transcript": "NM_032047.5",
"protein_id": "NP_114436.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 378,
"cds_start": 820,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326505.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032047.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT5",
"gene_hgnc_id": 15684,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Thr274Ala",
"transcript": "ENST00000326505.4",
"protein_id": "ENSP00000316173.3",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 378,
"cds_start": 820,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032047.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326505.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT5",
"gene_hgnc_id": 15684,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Thr274Ala",
"transcript": "ENST00000465010.1",
"protein_id": "ENSP00000417868.1",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 378,
"cds_start": 820,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465010.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MCF2L2",
"gene_hgnc_id": 30319,
"hgvs_c": "c.1862+6254T>C",
"hgvs_p": null,
"transcript": "NM_015078.4",
"protein_id": "NP_055893.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1114,
"cds_start": null,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000328913.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015078.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MCF2L2",
"gene_hgnc_id": 30319,
"hgvs_c": "c.1862+6254T>C",
"hgvs_p": null,
"transcript": "ENST00000328913.8",
"protein_id": "ENSP00000328118.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1114,
"cds_start": null,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015078.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328913.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MCF2L2",
"gene_hgnc_id": 30319,
"hgvs_c": "c.1862+6254T>C",
"hgvs_p": null,
"transcript": "ENST00000447025.6",
"protein_id": "ENSP00000388190.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": null,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447025.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT5",
"gene_hgnc_id": 15684,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Thr274Ala",
"transcript": "ENST00000460419.1",
"protein_id": "ENSP00000420778.1",
"transcript_support_level": 2,
"aa_start": 274,
"aa_end": null,
"aa_length": 378,
"cds_start": 820,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460419.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT5",
"gene_hgnc_id": 15684,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Thr274Ala",
"transcript": "ENST00000877397.1",
"protein_id": "ENSP00000547456.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 378,
"cds_start": 820,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877397.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT5",
"gene_hgnc_id": 15684,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Thr274Ala",
"transcript": "ENST00000877398.1",
"protein_id": "ENSP00000547457.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 378,
"cds_start": 820,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877398.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT5",
"gene_hgnc_id": 15684,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Thr274Ala",
"transcript": "ENST00000877399.1",
"protein_id": "ENSP00000547458.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 378,
"cds_start": 820,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877399.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT5",
"gene_hgnc_id": 15684,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Thr274Ala",
"transcript": "ENST00000877400.1",
"protein_id": "ENSP00000547459.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 378,
"cds_start": 820,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877400.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT5",
"gene_hgnc_id": 15684,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Thr274Ala",
"transcript": "ENST00000877401.1",
"protein_id": "ENSP00000547460.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 378,
"cds_start": 820,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877401.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT5",
"gene_hgnc_id": 15684,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Thr274Ala",
"transcript": "ENST00000877402.1",
"protein_id": "ENSP00000547461.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 378,
"cds_start": 820,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877402.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT5",
"gene_hgnc_id": 15684,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Thr274Ala",
"transcript": "ENST00000877403.1",
"protein_id": "ENSP00000547462.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 378,
"cds_start": 820,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877403.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT5",
"gene_hgnc_id": 15684,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Thr274Ala",
"transcript": "ENST00000877404.1",
"protein_id": "ENSP00000547463.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 378,
"cds_start": 820,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877404.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT5",
"gene_hgnc_id": 15684,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Thr274Ala",
"transcript": "ENST00000877405.1",
"protein_id": "ENSP00000547464.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 378,
"cds_start": 820,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877405.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT5",
"gene_hgnc_id": 15684,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Thr274Ala",
"transcript": "ENST00000877406.1",
"protein_id": "ENSP00000547465.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 378,
"cds_start": 820,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877406.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT5",
"gene_hgnc_id": 15684,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Thr274Ala",
"transcript": "ENST00000957215.1",
"protein_id": "ENSP00000627274.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 378,
"cds_start": 820,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957215.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT5",
"gene_hgnc_id": 15684,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Thr274Ala",
"transcript": "ENST00000957216.1",
"protein_id": "ENSP00000627275.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 378,
"cds_start": 820,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957216.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT5",
"gene_hgnc_id": 15684,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Thr274Ala",
"transcript": "ENST00000957217.1",
"protein_id": "ENSP00000627276.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 378,
"cds_start": 820,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957217.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT5",
"gene_hgnc_id": 15684,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Thr274Ala",
"transcript": "ENST00000957218.1",
"protein_id": "ENSP00000627277.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 378,
"cds_start": 820,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957218.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT5",
"gene_hgnc_id": 15684,
"hgvs_c": "c.820A>G",
"hgvs_p": "p.Thr274Ala",
"transcript": "XM_005247823.6",
"protein_id": "XP_005247880.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 378,
"cds_start": 820,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}