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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: 5-7889194-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=7889194&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 7889194,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000440940.7",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1246T>G",
"hgvs_p": "p.Phe416Val",
"transcript": "NM_002454.3",
"protein_id": "NP_002445.2",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 698,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": "ENST00000440940.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1246T>G",
"hgvs_p": "p.Phe416Val",
"transcript": "ENST00000440940.7",
"protein_id": "ENSP00000402510.2",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 698,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": "NM_002454.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1327T>G",
"hgvs_p": "p.Phe443Val",
"transcript": "ENST00000264668.6",
"protein_id": "ENSP00000264668.2",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 725,
"cds_start": 1327,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "n.*953T>G",
"hgvs_p": null,
"transcript": "ENST00000513439.5",
"protein_id": "ENSP00000426710.1",
"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": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "n.*953T>G",
"hgvs_p": null,
"transcript": "ENST00000513439.5",
"protein_id": "ENSP00000426710.1",
"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": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1246T>G",
"hgvs_p": "p.Phe416Val",
"transcript": "NM_001364440.2",
"protein_id": "NP_001351369.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 698,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 2180,
"cdna_end": null,
"cdna_length": 4086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1246T>G",
"hgvs_p": "p.Phe416Val",
"transcript": "NM_001364441.2",
"protein_id": "NP_001351370.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 698,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 3748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1246T>G",
"hgvs_p": "p.Phe416Val",
"transcript": "NM_001364442.2",
"protein_id": "NP_001351371.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 698,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1246T>G",
"hgvs_p": "p.Phe416Val",
"transcript": "NM_024010.4",
"protein_id": "NP_076915.3",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 698,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1246T>G",
"hgvs_p": "p.Phe416Val",
"transcript": "XM_024446064.2",
"protein_id": "XP_024301832.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 698,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 2211,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1246T>G",
"hgvs_p": "p.Phe416Val",
"transcript": "XM_047417233.1",
"protein_id": "XP_047273189.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 698,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 2530,
"cdna_end": null,
"cdna_length": 4436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1246T>G",
"hgvs_p": "p.Phe416Val",
"transcript": "XM_047417234.1",
"protein_id": "XP_047273190.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 698,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 4011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1246T>G",
"hgvs_p": "p.Phe416Val",
"transcript": "XM_047417236.1",
"protein_id": "XP_047273192.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 453,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 1540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1269T>G",
"hgvs_p": "p.Ala423Ala",
"transcript": "XM_047417235.1",
"protein_id": "XP_047273191.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 485,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "n.486T>G",
"hgvs_p": null,
"transcript": "ENST00000508101.5",
"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": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "n.259T>G",
"hgvs_p": null,
"transcript": "ENST00000509961.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "n.*65T>G",
"hgvs_p": null,
"transcript": "ENST00000510525.5",
"protein_id": "ENSP00000421991.1",
"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": 3091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "n.*915T>G",
"hgvs_p": null,
"transcript": "ENST00000511461.5",
"protein_id": "ENSP00000424719.1",
"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": 3076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "n.225T>G",
"hgvs_p": null,
"transcript": "ENST00000512311.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "n.1325T>G",
"hgvs_p": null,
"transcript": "NR_134480.2",
"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": 3231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "n.1250T>G",
"hgvs_p": null,
"transcript": "NR_134481.2",
"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": 3156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "n.1185T>G",
"hgvs_p": null,
"transcript": "NR_134482.2",
"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": 3091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "n.1299T>G",
"hgvs_p": null,
"transcript": "NR_157168.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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}