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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: 14-65101553-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=65101553&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 65101553,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002382.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Gln19Arg",
"transcript": "NM_002382.5",
"protein_id": "NP_002373.3",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 160,
"cds_start": 56,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358664.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002382.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Gln19Arg",
"transcript": "ENST00000358664.9",
"protein_id": "ENSP00000351490.4",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 160,
"cds_start": 56,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002382.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358664.9"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Gln19Arg",
"transcript": "ENST00000284165.10",
"protein_id": "ENSP00000284165.6",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 134,
"cds_start": 56,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000284165.10"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Gln19Arg",
"transcript": "ENST00000246163.2",
"protein_id": "ENSP00000246163.2",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 96,
"cds_start": 56,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000246163.2"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.36+751A>G",
"hgvs_p": null,
"transcript": "ENST00000358402.8",
"protein_id": "ENSP00000351175.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": null,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358402.8"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.36+751A>G",
"hgvs_p": null,
"transcript": "ENST00000555667.5",
"protein_id": "ENSP00000452286.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": null,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555667.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "n.56A>G",
"hgvs_p": null,
"transcript": "ENST00000394606.6",
"protein_id": "ENSP00000378104.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000394606.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "n.56A>G",
"hgvs_p": null,
"transcript": "ENST00000553928.5",
"protein_id": "ENSP00000451907.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000553928.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Gln19Arg",
"transcript": "NM_001407094.1",
"protein_id": "NP_001394023.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 160,
"cds_start": 56,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407094.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Gln19Arg",
"transcript": "NM_001407096.1",
"protein_id": "NP_001394025.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 130,
"cds_start": 56,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407096.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Gln19Arg",
"transcript": "NM_001407097.1",
"protein_id": "NP_001394026.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 130,
"cds_start": 56,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407097.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Gln19Arg",
"transcript": "NM_001407098.1",
"protein_id": "NP_001394027.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 124,
"cds_start": 56,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407098.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Gln19Arg",
"transcript": "ENST00000555419.5",
"protein_id": "ENSP00000452405.1",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 124,
"cds_start": 56,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555419.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Gln19Arg",
"transcript": "NM_001407103.1",
"protein_id": "NP_001394032.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 103,
"cds_start": 56,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407103.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Gln19Arg",
"transcript": "NM_001407104.1",
"protein_id": "NP_001394033.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 103,
"cds_start": 56,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407104.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Gln19Arg",
"transcript": "NM_145113.3",
"protein_id": "NP_660088.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 103,
"cds_start": 56,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145113.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Gln19Arg",
"transcript": "ENST00000556979.6",
"protein_id": "ENSP00000452378.1",
"transcript_support_level": 3,
"aa_start": 19,
"aa_end": null,
"aa_length": 103,
"cds_start": 56,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556979.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Gln19Arg",
"transcript": "NM_145114.3",
"protein_id": "NP_660089.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 96,
"cds_start": 56,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145114.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Gln19Arg",
"transcript": "NM_197957.4",
"protein_id": "NP_932061.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 83,
"cds_start": 56,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_197957.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Gln19Arg",
"transcript": "ENST00000341653.6",
"protein_id": "ENSP00000342482.2",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 83,
"cds_start": 56,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341653.6"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.79A>G",
"hgvs_p": "p.Asn27Asp",
"transcript": "NM_001407114.1",
"protein_id": "NP_001394043.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 82,
"cds_start": 79,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407114.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAX",
"gene_hgnc_id": 6913,
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Gln19Arg",
"transcript": "XM_011536773.4",
"protein_id": "XP_011535075.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 153,
"cds_start": 56,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536773.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
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}
],
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}