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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: 6-73497873-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=73497873&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 73497873,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001123226.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1894C>T",
"hgvs_p": "p.Leu632Leu",
"transcript": "NM_012123.4",
"protein_id": "NP_036255.2",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 692,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000498286.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012123.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1894C>T",
"hgvs_p": "p.Leu632Leu",
"transcript": "ENST00000498286.6",
"protein_id": "ENSP00000419561.2",
"transcript_support_level": 1,
"aa_start": 632,
"aa_end": null,
"aa_length": 692,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012123.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498286.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.2014C>T",
"hgvs_p": "p.Leu672Leu",
"transcript": "ENST00000415954.6",
"protein_id": "ENSP00000402038.2",
"transcript_support_level": 1,
"aa_start": 672,
"aa_end": null,
"aa_length": 732,
"cds_start": 2014,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415954.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1969C>T",
"hgvs_p": "p.Leu657Leu",
"transcript": "ENST00000370300.8",
"protein_id": "ENSP00000359323.4",
"transcript_support_level": 1,
"aa_start": 657,
"aa_end": null,
"aa_length": 717,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370300.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Leu583Leu",
"transcript": "ENST00000370305.5",
"protein_id": "ENSP00000359328.1",
"transcript_support_level": 1,
"aa_start": 583,
"aa_end": null,
"aa_length": 643,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370305.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "n.2075C>T",
"hgvs_p": null,
"transcript": "ENST00000370308.8",
"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": "retained_intron",
"feature": "ENST00000370308.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.2014C>T",
"hgvs_p": "p.Leu672Leu",
"transcript": "NM_001123226.2",
"protein_id": "NP_001116698.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 732,
"cds_start": 2014,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001123226.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1969C>T",
"hgvs_p": "p.Leu657Leu",
"transcript": "NM_133645.3",
"protein_id": "NP_598400.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 717,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133645.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1858C>T",
"hgvs_p": "p.Leu620Leu",
"transcript": "ENST00000969378.1",
"protein_id": "ENSP00000639437.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 680,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969378.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Leu558Leu",
"transcript": "ENST00000680686.1",
"protein_id": "ENSP00000506609.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 618,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680686.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1612C>T",
"hgvs_p": "p.Leu538Leu",
"transcript": "ENST00000681500.1",
"protein_id": "ENSP00000506439.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 598,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681500.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1300C>T",
"hgvs_p": "p.Leu434Leu",
"transcript": "ENST00000861273.1",
"protein_id": "ENSP00000531332.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 494,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861273.1"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1757-2701C>T",
"hgvs_p": null,
"transcript": "ENST00000681204.1",
"protein_id": "ENSP00000505819.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": null,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681204.1"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1535-2701C>T",
"hgvs_p": null,
"transcript": "ENST00000521156.6",
"protein_id": "ENSP00000428863.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 515,
"cds_start": null,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521156.6"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "c.1261-2701C>T",
"hgvs_p": null,
"transcript": "ENST00000969379.1",
"protein_id": "ENSP00000639438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": null,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969379.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "c.1030-5069G>A",
"hgvs_p": null,
"transcript": "ENST00000676547.1",
"protein_id": "ENSP00000503518.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": null,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676547.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "n.*1025C>T",
"hgvs_p": null,
"transcript": "ENST00000415228.5",
"protein_id": "ENSP00000416397.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000415228.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "n.1916C>T",
"hgvs_p": null,
"transcript": "ENST00000462039.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000462039.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "n.*1266C>T",
"hgvs_p": null,
"transcript": "ENST00000679352.1",
"protein_id": "ENSP00000505776.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000679352.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "n.*1036C>T",
"hgvs_p": null,
"transcript": "ENST00000679364.1",
"protein_id": "ENSP00000505626.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000679364.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "n.*1689C>T",
"hgvs_p": null,
"transcript": "ENST00000679411.1",
"protein_id": "ENSP00000506532.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000679411.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTO1",
"gene_hgnc_id": 19261,
"hgvs_c": "n.*1448C>T",
"hgvs_p": null,
"transcript": "ENST00000679418.1",
"protein_id": "ENSP00000505278.1",
"transcript_support_level": null,
"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,
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{
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"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"phenotype_combined": "not specified|not provided|Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
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}