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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: 14-50312081-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50312081&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 50312081,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000267436.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Pro24Ser",
"transcript": "NM_024884.3",
"protein_id": "NP_079160.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 463,
"cds_start": 70,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 6095,
"mane_select": "ENST00000267436.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Pro24Ser",
"transcript": "ENST00000267436.9",
"protein_id": "ENSP00000267436.4",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 463,
"cds_start": 70,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 6095,
"mane_select": "NM_024884.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Pro24Ser",
"transcript": "ENST00000261699.8",
"protein_id": "ENSP00000261699.4",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 441,
"cds_start": 70,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 88,
"cdna_end": null,
"cdna_length": 1377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Pro24Ser",
"transcript": "ENST00000555423.5",
"protein_id": "ENSP00000450494.1",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 236,
"cds_start": 70,
"cds_end": null,
"cds_length": 711,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Pro24Ser",
"transcript": "NM_001425212.1",
"protein_id": "NP_001412141.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 463,
"cds_start": 70,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 5175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Pro24Ser",
"transcript": "ENST00000421284.7",
"protein_id": "ENSP00000405559.3",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 463,
"cds_start": 70,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Pro24Ser",
"transcript": "ENST00000555610.1",
"protein_id": "ENSP00000452483.1",
"transcript_support_level": 5,
"aa_start": 24,
"aa_end": null,
"aa_length": 211,
"cds_start": 70,
"cds_end": null,
"cds_length": 636,
"cdna_start": 74,
"cdna_end": null,
"cdna_length": 804,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "n.70C>T",
"hgvs_p": null,
"transcript": "ENST00000554191.5",
"protein_id": "ENSP00000451194.1",
"transcript_support_level": 4,
"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": 597,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "n.67C>T",
"hgvs_p": null,
"transcript": "ENST00000556393.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 548,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "n.149C>T",
"hgvs_p": null,
"transcript": "XR_007064046.1",
"protein_id": null,
"transcript_support_level": null,
"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": 981,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "n.149C>T",
"hgvs_p": null,
"transcript": "XR_007064047.1",
"protein_id": null,
"transcript_support_level": null,
"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": 953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.-185C>T",
"hgvs_p": null,
"transcript": "NM_001425213.1",
"protein_id": "NP_001412142.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": -4,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.-185C>T",
"hgvs_p": null,
"transcript": "NM_001425214.1",
"protein_id": "NP_001412143.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": -4,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.-699C>T",
"hgvs_p": null,
"transcript": "NM_001425215.1",
"protein_id": "NP_001412144.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.-541C>T",
"hgvs_p": null,
"transcript": "NM_001425216.1",
"protein_id": "NP_001412145.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.-634C>T",
"hgvs_p": null,
"transcript": "NM_001425217.1",
"protein_id": "NP_001412146.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.-556C>T",
"hgvs_p": null,
"transcript": "NM_001425218.1",
"protein_id": "NP_001412147.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.-6+227G>A",
"hgvs_p": null,
"transcript": "NM_001382509.1",
"protein_id": "NP_001369438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.-350G>A",
"hgvs_p": null,
"transcript": "NM_001382507.1",
"protein_id": "NP_001369436.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": "ENST00000557421.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.-350G>A",
"hgvs_p": null,
"transcript": "ENST00000557421.7",
"protein_id": "ENSP00000506374.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": "NM_001382507.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.-985G>A",
"hgvs_p": null,
"transcript": "ENST00000311459.12",
"protein_id": "ENSP00000308334.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.-985G>A",
"hgvs_p": null,
"transcript": "ENST00000554204.7",
"protein_id": "ENSP00000451583.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMAC2L",
"gene_hgnc_id": 18799,
"hgvs_c": "c.-985G>A",
"hgvs_p": null,
"transcript": "ENST00000426751.7",
"protein_id": "ENSP00000389246.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": -4,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
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{
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}
],
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}