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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: 19-39169749-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=39169749&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 39169749,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005884.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "NM_005884.5",
"protein_id": "NP_005875.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 591,
"cds_start": 196,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360442.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005884.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"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": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "ENST00000360442.8",
"protein_id": "ENSP00000353625.3",
"transcript_support_level": 5,
"aa_start": 66,
"aa_end": null,
"aa_length": 591,
"cds_start": 196,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005884.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360442.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "ENST00000358301.7",
"protein_id": "ENSP00000351049.2",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 591,
"cds_start": 196,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358301.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "ENST00000593690.5",
"protein_id": "ENSP00000469413.1",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 591,
"cds_start": 196,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593690.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "ENST00000321944.8",
"protein_id": "ENSP00000326864.4",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 501,
"cds_start": 196,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321944.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "ENST00000599386.5",
"protein_id": "ENSP00000471157.1",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 438,
"cds_start": 196,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599386.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "ENST00000599470.5",
"protein_id": "ENSP00000470284.1",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 438,
"cds_start": 196,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599470.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "ENST00000896099.1",
"protein_id": "ENSP00000566158.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 634,
"cds_start": 196,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896099.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "ENST00000919869.1",
"protein_id": "ENSP00000589928.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 618,
"cds_start": 196,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919869.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "ENST00000963841.1",
"protein_id": "ENSP00000633900.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 618,
"cds_start": 196,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963841.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "ENST00000896103.1",
"protein_id": "ENSP00000566162.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 617,
"cds_start": 196,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896103.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "ENST00000896097.1",
"protein_id": "ENSP00000566156.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 608,
"cds_start": 196,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896097.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "NM_001014831.3",
"protein_id": "NP_001014831.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 591,
"cds_start": 196,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014831.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "NM_001014832.2",
"protein_id": "NP_001014832.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 591,
"cds_start": 196,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014832.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "NM_001394501.1",
"protein_id": "NP_001381430.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 591,
"cds_start": 196,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394501.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "ENST00000896091.1",
"protein_id": "ENSP00000566150.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 591,
"cds_start": 196,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896091.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "ENST00000896092.1",
"protein_id": "ENSP00000566151.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 591,
"cds_start": 196,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896092.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "ENST00000896093.1",
"protein_id": "ENSP00000566152.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 591,
"cds_start": 196,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896093.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "ENST00000896094.1",
"protein_id": "ENSP00000566153.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 591,
"cds_start": 196,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896094.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "ENST00000896098.1",
"protein_id": "ENSP00000566157.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 591,
"cds_start": 196,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896098.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "ENST00000896100.1",
"protein_id": "ENSP00000566159.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 591,
"cds_start": 196,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896100.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PAK4",
"gene_hgnc_id": 16059,
"hgvs_c": "c.196G>A",
"hgvs_p": "p.Ala66Thr",
"transcript": "ENST00000896101.1",
"protein_id": "ENSP00000566160.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 591,
"cds_start": 196,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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