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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: 2-240021232-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240021232&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 240021232,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000252711.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "NM_004544.4",
"protein_id": "NP_004535.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 355,
"cds_start": 425,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 4855,
"mane_select": "ENST00000252711.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "ENST00000252711.7",
"protein_id": "ENSP00000252711.2",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 355,
"cds_start": 425,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 4855,
"mane_select": "NM_004544.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "ENST00000307300.8",
"protein_id": "ENSP00000302321.4",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 429,
"cds_start": 425,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 1313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "ENST00000407129.3",
"protein_id": "ENSP00000383975.3",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 201,
"cds_start": 425,
"cds_end": null,
"cds_length": 606,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "ENST00000677567.1",
"protein_id": "ENSP00000503217.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 393,
"cds_start": 425,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "ENST00000404554.5",
"protein_id": "ENSP00000385697.1",
"transcript_support_level": 5,
"aa_start": 142,
"aa_end": null,
"aa_length": 390,
"cds_start": 425,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "ENST00000678289.1",
"protein_id": "ENSP00000504063.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 388,
"cds_start": 425,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "NM_001322019.2",
"protein_id": "NP_001308948.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 375,
"cds_start": 425,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "ENST00000448880.6",
"protein_id": "ENSP00000408224.2",
"transcript_support_level": 5,
"aa_start": 142,
"aa_end": null,
"aa_length": 375,
"cds_start": 425,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 2509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "ENST00000620965.5",
"protein_id": "ENSP00000480897.2",
"transcript_support_level": 5,
"aa_start": 142,
"aa_end": null,
"aa_length": 371,
"cds_start": 425,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "NM_001410987.1",
"protein_id": "NP_001397916.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 362,
"cds_start": 425,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "ENST00000444548.6",
"protein_id": "ENSP00000403080.2",
"transcript_support_level": 3,
"aa_start": 142,
"aa_end": null,
"aa_length": 362,
"cds_start": 425,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "ENST00000676491.1",
"protein_id": "ENSP00000504528.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 361,
"cds_start": 425,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "ENST00000676782.1",
"protein_id": "ENSP00000504717.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 358,
"cds_start": 425,
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"cdna_start": 513,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.422A>T",
"hgvs_p": "p.Gln141Leu",
"transcript": "ENST00000678455.1",
"protein_id": "ENSP00000504395.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 354,
"cds_start": 422,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 4849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "ENST00000678737.1",
"protein_id": "ENSP00000503770.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
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"cds_start": 425,
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"cdna_start": 513,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "ENST00000677407.1",
"protein_id": "ENSP00000503141.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 344,
"cds_start": 425,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 2546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "ENST00000677263.1",
"protein_id": "ENSP00000503790.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 339,
"cds_start": 425,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 513,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "ENST00000678914.1",
"protein_id": "ENSP00000504515.1",
"transcript_support_level": null,
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"cds_start": 425,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "NM_001322020.2",
"protein_id": "NP_001308949.1",
"transcript_support_level": null,
"aa_start": 142,
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"aa_length": 317,
"cds_start": 425,
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"cdna_start": 466,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "ENST00000679158.1",
"protein_id": "ENSP00000503837.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 317,
"cds_start": 425,
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"cdna_start": 513,
"cdna_end": null,
"cdna_length": 1332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
"hgvs_p": "p.Gln142Leu",
"transcript": "ENST00000677294.1",
"protein_id": "ENSP00000503461.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 297,
"cds_start": 425,
"cds_end": null,
"cds_length": 894,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 4709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.425A>T",
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],
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{
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"verdict": "Likely_pathogenic",
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"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}