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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: 1-28714147-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=28714147&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 28714147,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006582.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1066G>C",
"hgvs_p": "p.Val356Leu",
"transcript": "NM_001319674.2",
"protein_id": "NP_001306603.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 563,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373816.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319674.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1066G>C",
"hgvs_p": "p.Val356Leu",
"transcript": "ENST00000373816.6",
"protein_id": "ENSP00000362922.1",
"transcript_support_level": 2,
"aa_start": 356,
"aa_end": null,
"aa_length": 563,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001319674.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373816.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1096G>C",
"hgvs_p": "p.Val366Leu",
"transcript": "ENST00000294409.2",
"protein_id": "ENSP00000294409.2",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 573,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294409.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1066G>C",
"hgvs_p": "p.Val356Leu",
"transcript": "ENST00000361872.8",
"protein_id": "ENSP00000355186.4",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 563,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361872.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "n.1145G>C",
"hgvs_p": null,
"transcript": "ENST00000480454.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000480454.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1096G>C",
"hgvs_p": "p.Val366Leu",
"transcript": "NM_006582.4",
"protein_id": "NP_006573.2",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 573,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006582.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1096G>C",
"hgvs_p": "p.Val366Leu",
"transcript": "ENST00000853890.1",
"protein_id": "ENSP00000523949.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 573,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853890.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1096G>C",
"hgvs_p": "p.Val366Leu",
"transcript": "ENST00000853892.1",
"protein_id": "ENSP00000523951.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 573,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853892.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1096G>C",
"hgvs_p": "p.Val366Leu",
"transcript": "ENST00000853895.1",
"protein_id": "ENSP00000523954.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 573,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853895.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1096G>C",
"hgvs_p": "p.Val366Leu",
"transcript": "ENST00000853897.1",
"protein_id": "ENSP00000523956.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 573,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853897.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1096G>C",
"hgvs_p": "p.Val366Leu",
"transcript": "ENST00000940222.1",
"protein_id": "ENSP00000610281.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 573,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940222.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1090G>C",
"hgvs_p": "p.Val364Leu",
"transcript": "ENST00000941584.1",
"protein_id": "ENSP00000611643.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 571,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941584.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1066G>C",
"hgvs_p": "p.Val356Leu",
"transcript": "NM_024482.3",
"protein_id": "NP_077808.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 563,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024482.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1066G>C",
"hgvs_p": "p.Val356Leu",
"transcript": "ENST00000853891.1",
"protein_id": "ENSP00000523950.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 563,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853891.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1066G>C",
"hgvs_p": "p.Val356Leu",
"transcript": "ENST00000853898.1",
"protein_id": "ENSP00000523957.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 563,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853898.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1066G>C",
"hgvs_p": "p.Val356Leu",
"transcript": "ENST00000853899.1",
"protein_id": "ENSP00000523958.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 563,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853899.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1066G>C",
"hgvs_p": "p.Val356Leu",
"transcript": "ENST00000940223.1",
"protein_id": "ENSP00000610282.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 563,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940223.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1066G>C",
"hgvs_p": "p.Val356Leu",
"transcript": "ENST00000940225.1",
"protein_id": "ENSP00000610284.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 563,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940225.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1066G>C",
"hgvs_p": "p.Val356Leu",
"transcript": "ENST00000940226.1",
"protein_id": "ENSP00000610285.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 563,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940226.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1066G>C",
"hgvs_p": "p.Val356Leu",
"transcript": "ENST00000940227.1",
"protein_id": "ENSP00000610286.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 563,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940227.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1066G>C",
"hgvs_p": "p.Val356Leu",
"transcript": "ENST00000940228.1",
"protein_id": "ENSP00000610287.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 563,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940228.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMEB1",
"gene_hgnc_id": 4370,
"hgvs_c": "c.1066G>C",
"hgvs_p": "p.Val356Leu",
"transcript": "ENST00000941585.1",
"protein_id": "ENSP00000611644.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 563,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
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