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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: 7-144453601-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=144453601&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 144453601,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022445.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Val226Ile",
"transcript": "NM_022445.4",
"protein_id": "NP_071890.2",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 243,
"cds_start": 676,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360057.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022445.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Val226Ile",
"transcript": "ENST00000360057.7",
"protein_id": "ENSP00000353165.3",
"transcript_support_level": 1,
"aa_start": 226,
"aa_end": null,
"aa_length": 243,
"cds_start": 676,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022445.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360057.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "n.*432G>A",
"hgvs_p": null,
"transcript": "ENST00000378098.8",
"protein_id": "ENSP00000367338.4",
"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": "ENST00000378098.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "n.*707G>A",
"hgvs_p": null,
"transcript": "ENST00000482940.5",
"protein_id": "ENSP00000449909.1",
"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": "ENST00000482940.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "n.*432G>A",
"hgvs_p": null,
"transcript": "ENST00000378098.8",
"protein_id": "ENSP00000367338.4",
"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": "ENST00000378098.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "n.*707G>A",
"hgvs_p": null,
"transcript": "ENST00000482940.5",
"protein_id": "ENSP00000449909.1",
"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": "ENST00000482940.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Ile",
"transcript": "ENST00000889991.1",
"protein_id": "ENSP00000560050.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 260,
"cds_start": 727,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889991.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Val242Ile",
"transcript": "ENST00000889990.1",
"protein_id": "ENSP00000560049.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 259,
"cds_start": 724,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889990.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Val226Ile",
"transcript": "NM_001350879.1",
"protein_id": "NP_001337808.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 243,
"cds_start": 676,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350879.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Val226Ile",
"transcript": "ENST00000889989.1",
"protein_id": "ENSP00000560048.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 243,
"cds_start": 676,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889989.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Val226Ile",
"transcript": "ENST00000889994.1",
"protein_id": "ENSP00000560053.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 243,
"cds_start": 676,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889994.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Val226Ile",
"transcript": "ENST00000889995.1",
"protein_id": "ENSP00000560054.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 243,
"cds_start": 676,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889995.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "NM_001350882.1",
"protein_id": "NP_001337811.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 238,
"cds_start": 661,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350882.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "NM_001350883.1",
"protein_id": "NP_001337812.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 238,
"cds_start": 661,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350883.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "NM_001350884.2",
"protein_id": "NP_001337813.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 238,
"cds_start": 661,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350884.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.583G>A",
"hgvs_p": "p.Val195Ile",
"transcript": "ENST00000889993.1",
"protein_id": "ENSP00000560052.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 212,
"cds_start": 583,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889993.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Val177Ile",
"transcript": "NM_001042482.2",
"protein_id": "NP_001035947.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 194,
"cds_start": 529,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042482.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Val177Ile",
"transcript": "NM_001350880.1",
"protein_id": "NP_001337809.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 194,
"cds_start": 529,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350880.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Val177Ile",
"transcript": "ENST00000378099.7",
"protein_id": "ENSP00000367339.3",
"transcript_support_level": 3,
"aa_start": 177,
"aa_end": null,
"aa_length": 194,
"cds_start": 529,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378099.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Val177Ile",
"transcript": "ENST00000889992.1",
"protein_id": "ENSP00000560051.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 194,
"cds_start": 529,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889992.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Val177Ile",
"transcript": "ENST00000929247.1",
"protein_id": "ENSP00000599306.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 194,
"cds_start": 529,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929247.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPK1",
"gene_hgnc_id": 17358,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Val177Ile",
"transcript": "ENST00000956436.1",
"protein_id": "ENSP00000626495.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 194,
"cds_start": 529,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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}
],
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}