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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: 4-108033239-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=108033239&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 108033239,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000309522.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Pro258Leu",
"transcript": "NM_005327.7",
"protein_id": "NP_005318.6",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 314,
"cds_start": 773,
"cds_end": null,
"cds_length": 945,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": "ENST00000309522.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Pro258Leu",
"transcript": "ENST00000309522.8",
"protein_id": "ENSP00000312288.4",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 314,
"cds_start": 773,
"cds_end": null,
"cds_length": 945,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": "NM_005327.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.1001C>T",
"hgvs_p": "p.Pro334Leu",
"transcript": "ENST00000505878.4",
"protein_id": "ENSP00000425952.2",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 390,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Pro275Leu",
"transcript": "ENST00000603302.5",
"protein_id": "ENSP00000474560.1",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 331,
"cds_start": 824,
"cds_end": null,
"cds_length": 996,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Pro275Leu",
"transcript": "NM_001184705.4",
"protein_id": "NP_001171634.3",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 331,
"cds_start": 824,
"cds_end": null,
"cds_length": 996,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Pro262Leu",
"transcript": "NM_001331027.2",
"protein_id": "NP_001317956.2",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 318,
"cds_start": 785,
"cds_end": null,
"cds_length": 957,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Pro262Leu",
"transcript": "ENST00000626637.2",
"protein_id": "ENSP00000486771.1",
"transcript_support_level": 2,
"aa_start": 262,
"aa_end": null,
"aa_length": 318,
"cds_start": 785,
"cds_end": null,
"cds_length": 957,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Pro261Leu",
"transcript": "ENST00000403312.6",
"protein_id": "ENSP00000385638.3",
"transcript_support_level": 5,
"aa_start": 261,
"aa_end": null,
"aa_length": 317,
"cds_start": 782,
"cds_end": null,
"cds_length": 954,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "ENST00000638559.1",
"protein_id": "ENSP00000490998.1",
"transcript_support_level": 5,
"aa_start": 210,
"aa_end": null,
"aa_length": 266,
"cds_start": 629,
"cds_end": null,
"cds_length": 801,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 1369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Pro144Leu",
"transcript": "ENST00000682373.1",
"protein_id": "ENSP00000508283.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 200,
"cds_start": 431,
"cds_end": null,
"cds_length": 603,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 1317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "c.359C>T",
"hgvs_p": "p.Pro120Leu",
"transcript": "ENST00000638621.1",
"protein_id": "ENSP00000491581.1",
"transcript_support_level": 5,
"aa_start": 120,
"aa_end": null,
"aa_length": 176,
"cds_start": 359,
"cds_end": null,
"cds_length": 531,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 741,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.5292C>T",
"hgvs_p": null,
"transcript": "ENST00000507260.3",
"protein_id": null,
"transcript_support_level": 2,
"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": 6258,
"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": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.1892C>T",
"hgvs_p": null,
"transcript": "ENST00000510728.6",
"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": 2948,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.5621C>T",
"hgvs_p": null,
"transcript": "ENST00000514776.3",
"protein_id": null,
"transcript_support_level": 2,
"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": 6677,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.2269C>T",
"hgvs_p": null,
"transcript": "ENST00000515462.7",
"protein_id": null,
"transcript_support_level": 2,
"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": 3325,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.*166C>T",
"hgvs_p": null,
"transcript": "ENST00000638648.2",
"protein_id": "ENSP00000507949.1",
"transcript_support_level": 2,
"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": 1976,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.*166C>T",
"hgvs_p": null,
"transcript": "ENST00000639146.1",
"protein_id": "ENSP00000492345.1",
"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": 1964,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.*208C>T",
"hgvs_p": null,
"transcript": "ENST00000639335.1",
"protein_id": "ENSP00000491310.1",
"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": 1327,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.*28C>T",
"hgvs_p": null,
"transcript": "ENST00000639698.1",
"protein_id": "ENSP00000492420.1",
"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": 1507,
"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": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.*135C>T",
"hgvs_p": null,
"transcript": "ENST00000639784.1",
"protein_id": "ENSP00000491783.1",
"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": 1355,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.*247C>T",
"hgvs_p": null,
"transcript": "ENST00000640048.1",
"protein_id": "ENSP00000492009.1",
"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": 1670,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.*868C>T",
"hgvs_p": null,
"transcript": "ENST00000640060.1",
"protein_id": "ENSP00000492734.1",
"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": 1895,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADH",
"gene_hgnc_id": 4799,
"hgvs_c": "n.1168C>T",
"hgvs_p": null,
"transcript": "ENST00000640201.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"clinvar_submissions_summary": "null",
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}
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}