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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: 6-52452751-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=52452751&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 52452751,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018100.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.637A>G",
"hgvs_p": "p.Thr213Ala",
"transcript": "NM_018100.4",
"protein_id": "NP_060570.2",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 640,
"cds_start": 637,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371068.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018100.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.637A>G",
"hgvs_p": "p.Thr213Ala",
"transcript": "ENST00000371068.11",
"protein_id": "ENSP00000360107.4",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 640,
"cds_start": 637,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018100.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371068.11"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.1305A>G",
"hgvs_p": null,
"transcript": "ENST00000637340.1",
"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": "ENST00000637340.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.637A>G",
"hgvs_p": "p.Thr213Ala",
"transcript": "ENST00000637353.1",
"protein_id": "ENSP00000490441.1",
"transcript_support_level": 5,
"aa_start": 213,
"aa_end": null,
"aa_length": 641,
"cds_start": 637,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637353.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.637A>G",
"hgvs_p": "p.Thr213Ala",
"transcript": "ENST00000635996.1",
"protein_id": "ENSP00000490256.1",
"transcript_support_level": 5,
"aa_start": 213,
"aa_end": null,
"aa_length": 632,
"cds_start": 637,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635996.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.637A>G",
"hgvs_p": "p.Thr213Ala",
"transcript": "ENST00000637089.1",
"protein_id": "ENSP00000489854.1",
"transcript_support_level": 5,
"aa_start": 213,
"aa_end": null,
"aa_length": 631,
"cds_start": 637,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637089.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.607A>G",
"hgvs_p": "p.Thr203Ala",
"transcript": "ENST00000636702.1",
"protein_id": "ENSP00000489623.1",
"transcript_support_level": 5,
"aa_start": 203,
"aa_end": null,
"aa_length": 630,
"cds_start": 607,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636702.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.580A>G",
"hgvs_p": "p.Thr194Ala",
"transcript": "NM_001172420.2",
"protein_id": "NP_001165891.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 621,
"cds_start": 580,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172420.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.580A>G",
"hgvs_p": "p.Thr194Ala",
"transcript": "ENST00000538167.2",
"protein_id": "ENSP00000444521.1",
"transcript_support_level": 5,
"aa_start": 194,
"aa_end": null,
"aa_length": 621,
"cds_start": 580,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538167.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.580A>G",
"hgvs_p": "p.Thr194Ala",
"transcript": "ENST00000636489.1",
"protein_id": "ENSP00000489998.1",
"transcript_support_level": 5,
"aa_start": 194,
"aa_end": null,
"aa_length": 621,
"cds_start": 580,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636489.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.580A>G",
"hgvs_p": "p.Thr194Ala",
"transcript": "ENST00000636954.1",
"protein_id": "ENSP00000489966.1",
"transcript_support_level": 2,
"aa_start": 194,
"aa_end": null,
"aa_length": 621,
"cds_start": 580,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636954.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.637A>G",
"hgvs_p": "p.Thr213Ala",
"transcript": "ENST00000953671.1",
"protein_id": "ENSP00000623730.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 593,
"cds_start": 637,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953671.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.637A>G",
"hgvs_p": "p.Thr213Ala",
"transcript": "ENST00000914231.1",
"protein_id": "ENSP00000584290.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 589,
"cds_start": 637,
"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": "ENST00000914231.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.637A>G",
"hgvs_p": "p.Thr213Ala",
"transcript": "ENST00000636107.1",
"protein_id": "ENSP00000489680.1",
"transcript_support_level": 5,
"aa_start": 213,
"aa_end": null,
"aa_length": 582,
"cds_start": 637,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636107.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.421A>G",
"hgvs_p": "p.Thr141Ala",
"transcript": "ENST00000914230.1",
"protein_id": "ENSP00000584289.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 568,
"cds_start": 421,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914230.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.637A>G",
"hgvs_p": "p.Thr213Ala",
"transcript": "ENST00000637263.1",
"protein_id": "ENSP00000489700.1",
"transcript_support_level": 5,
"aa_start": 213,
"aa_end": null,
"aa_length": 552,
"cds_start": 637,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637263.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.349A>G",
"hgvs_p": "p.Thr117Ala",
"transcript": "ENST00000636379.1",
"protein_id": "ENSP00000490622.1",
"transcript_support_level": 5,
"aa_start": 117,
"aa_end": null,
"aa_length": 544,
"cds_start": 349,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636379.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala",
"transcript": "ENST00000635760.1",
"protein_id": "ENSP00000489765.1",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 532,
"cds_start": 313,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635760.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.637A>G",
"hgvs_p": "p.Thr213Ala",
"transcript": "ENST00000953672.1",
"protein_id": "ENSP00000623731.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 518,
"cds_start": 637,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953672.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.301A>G",
"hgvs_p": "p.Thr101Ala",
"transcript": "ENST00000636343.1",
"protein_id": "ENSP00000490193.1",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 517,
"cds_start": 301,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636343.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala",
"transcript": "ENST00000635984.1",
"protein_id": "ENSP00000489921.1",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 474,
"cds_start": 313,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635984.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "ENST00000638075.1",
"protein_id": "ENSP00000490711.1",
"transcript_support_level": 4,
"aa_start": 7,
"aa_end": null,
"aa_length": 11,
"cds_start": 19,
"cds_end": null,
"cds_length": 38,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638075.1"
},
{
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}
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}