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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: 5-7896948-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=7896948&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 7896948,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_002454.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1761T>C",
"hgvs_p": "p.Tyr587Tyr",
"transcript": "NM_002454.3",
"protein_id": "NP_002445.2",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 698,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": "ENST00000440940.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002454.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1761T>C",
"hgvs_p": "p.Tyr587Tyr",
"transcript": "ENST00000440940.7",
"protein_id": "ENSP00000402510.2",
"transcript_support_level": 1,
"aa_start": 587,
"aa_end": null,
"aa_length": 698,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": "NM_002454.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440940.7"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1842T>C",
"hgvs_p": "p.Tyr614Tyr",
"transcript": "ENST00000264668.6",
"protein_id": "ENSP00000264668.2",
"transcript_support_level": 1,
"aa_start": 614,
"aa_end": null,
"aa_length": 725,
"cds_start": 1842,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1872,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264668.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "n.*1468T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513439.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "n.*1468T>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513439.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1761T>C",
"hgvs_p": "p.Tyr587Tyr",
"transcript": "ENST00000869932.1",
"protein_id": "ENSP00000539991.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 706,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 2198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869932.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1761T>C",
"hgvs_p": "p.Tyr587Tyr",
"transcript": "NM_001364440.2",
"protein_id": "NP_001351369.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 698,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 2695,
"cdna_end": null,
"cdna_length": 4086,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364440.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1761T>C",
"hgvs_p": "p.Tyr587Tyr",
"transcript": "NM_001364441.2",
"protein_id": "NP_001351370.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 698,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 2357,
"cdna_end": null,
"cdna_length": 3748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364441.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1761T>C",
"hgvs_p": "p.Tyr587Tyr",
"transcript": "NM_001364442.2",
"protein_id": "NP_001351371.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 698,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1937,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364442.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1761T>C",
"hgvs_p": "p.Tyr587Tyr",
"transcript": "NM_024010.4",
"protein_id": "NP_076915.3",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 698,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1828,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024010.4"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1761T>C",
"hgvs_p": "p.Tyr587Tyr",
"transcript": "ENST00000869929.1",
"protein_id": "ENSP00000539988.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 698,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869929.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1761T>C",
"hgvs_p": "p.Tyr587Tyr",
"transcript": "ENST00000869930.1",
"protein_id": "ENSP00000539989.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 698,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 3383,
"cdna_end": null,
"cdna_length": 4790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869930.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1761T>C",
"hgvs_p": "p.Tyr587Tyr",
"transcript": "ENST00000869931.1",
"protein_id": "ENSP00000539990.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 698,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869931.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1761T>C",
"hgvs_p": "p.Tyr587Tyr",
"transcript": "ENST00000924322.1",
"protein_id": "ENSP00000594381.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 698,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924322.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1761T>C",
"hgvs_p": "p.Tyr587Tyr",
"transcript": "ENST00000941610.1",
"protein_id": "ENSP00000611669.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 698,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1961,
"cdna_end": null,
"cdna_length": 3363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941610.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1761T>C",
"hgvs_p": "p.Tyr587Tyr",
"transcript": "ENST00000941611.1",
"protein_id": "ENSP00000611670.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 698,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 3846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941611.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1758T>C",
"hgvs_p": "p.Tyr586Tyr",
"transcript": "ENST00000924323.1",
"protein_id": "ENSP00000594382.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 697,
"cds_start": 1758,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924323.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1758T>C",
"hgvs_p": "p.Tyr586Tyr",
"transcript": "ENST00000941608.1",
"protein_id": "ENSP00000611667.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 697,
"cds_start": 1758,
"cds_end": null,
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"cdna_start": 1833,
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"cdna_length": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941608.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1758T>C",
"hgvs_p": "p.Tyr586Tyr",
"transcript": "ENST00000941609.1",
"protein_id": "ENSP00000611668.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 697,
"cds_start": 1758,
"cds_end": null,
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"cdna_start": 1827,
"cdna_end": null,
"cdna_length": 3221,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941609.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1545T>C",
"hgvs_p": "p.Tyr515Tyr",
"transcript": "ENST00000941612.1",
"protein_id": "ENSP00000611671.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 626,
"cds_start": 1545,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 2124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941612.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1491T>C",
"hgvs_p": "p.Tyr497Tyr",
"transcript": "ENST00000924324.1",
"protein_id": "ENSP00000594383.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 608,
"cds_start": 1491,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924324.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRR",
"gene_hgnc_id": 7473,
"hgvs_c": "c.1761T>C",
"hgvs_p": "p.Tyr587Tyr",
"transcript": "XM_024446064.2",
"protein_id": "XP_024301832.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
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}
],
"clinvar_disease": "Disorders of Intracellular Cobalamin Metabolism,Methylcobalamin deficiency type cblE,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|Methylcobalamin deficiency type cblE|not provided|Disorders of Intracellular Cobalamin Metabolism",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}