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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: 1-225838705-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=225838705&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 225838705,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000120.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"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": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "NM_001136018.4",
"protein_id": "NP_001129490.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 455,
"cds_start": 416,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000272167.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136018.4"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"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": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "ENST00000272167.10",
"protein_id": "ENSP00000272167.5",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 455,
"cds_start": 416,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001136018.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272167.10"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "ENST00000366837.5",
"protein_id": "ENSP00000355802.4",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 455,
"cds_start": 416,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366837.5"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "ENST00000614058.4",
"protein_id": "ENSP00000480004.1",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 455,
"cds_start": 416,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614058.4"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "ENST00000869511.1",
"protein_id": "ENSP00000539570.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 492,
"cds_start": 416,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869511.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "ENST00000869476.1",
"protein_id": "ENSP00000539535.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 488,
"cds_start": 416,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869476.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "ENST00000869509.1",
"protein_id": "ENSP00000539568.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 488,
"cds_start": 416,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869509.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "ENST00000869484.1",
"protein_id": "ENSP00000539543.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 479,
"cds_start": 416,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869484.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "ENST00000869483.1",
"protein_id": "ENSP00000539542.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 467,
"cds_start": 416,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869483.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.His151Leu",
"transcript": "ENST00000869517.1",
"protein_id": "ENSP00000539576.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 467,
"cds_start": 452,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869517.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "ENST00000869470.1",
"protein_id": "ENSP00000539529.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 465,
"cds_start": 416,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869470.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "ENST00000869516.1",
"protein_id": "ENSP00000539575.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 465,
"cds_start": 416,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869516.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "ENST00000869519.1",
"protein_id": "ENSP00000539578.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 465,
"cds_start": 416,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869519.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "NM_000120.4",
"protein_id": "NP_000111.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 455,
"cds_start": 416,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000120.4"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "NM_001291163.2",
"protein_id": "NP_001278092.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 455,
"cds_start": 416,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291163.2"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "NM_001378426.1",
"protein_id": "NP_001365355.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 455,
"cds_start": 416,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378426.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "NM_001378427.1",
"protein_id": "NP_001365356.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 455,
"cds_start": 416,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378427.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "ENST00000869469.1",
"protein_id": "ENSP00000539528.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 455,
"cds_start": 416,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869469.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "ENST00000869471.1",
"protein_id": "ENSP00000539530.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 455,
"cds_start": 416,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869471.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "ENST00000869473.1",
"protein_id": "ENSP00000539532.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 455,
"cds_start": 416,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869473.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "ENST00000869474.1",
"protein_id": "ENSP00000539533.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 455,
"cds_start": 416,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869474.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"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": "EPHX1",
"gene_hgnc_id": 3401,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.His139Leu",
"transcript": "ENST00000869475.1",
"protein_id": "ENSP00000539534.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 455,
"cds_start": 416,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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