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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: 7-74825050-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=74825050&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 74825050,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001368300.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"transcript": "NM_173537.5",
"protein_id": "NP_775808.4",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 949,
"cds_start": 241,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000451013.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173537.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"transcript": "ENST00000451013.7",
"protein_id": "ENSP00000406723.3",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 949,
"cds_start": 241,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173537.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451013.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289346",
"gene_hgnc_id": null,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"transcript": "ENST00000625377.3",
"protein_id": "ENSP00000486581.2",
"transcript_support_level": 5,
"aa_start": 81,
"aa_end": null,
"aa_length": 949,
"cds_start": 241,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625377.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Ile",
"transcript": "NM_001368300.2",
"protein_id": "NP_001355229.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 1111,
"cds_start": 727,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368300.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Ile",
"transcript": "ENST00000651129.1",
"protein_id": "ENSP00000498563.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 1111,
"cds_start": 727,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651129.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"transcript": "NM_001388079.1",
"protein_id": "NP_001375008.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 954,
"cds_start": 241,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388079.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"transcript": "ENST00000907795.1",
"protein_id": "ENSP00000577854.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 954,
"cds_start": 241,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907795.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"transcript": "NM_001388087.1",
"protein_id": "NP_001375016.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 932,
"cds_start": 241,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388087.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"transcript": "ENST00000966521.1",
"protein_id": "ENSP00000636580.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 932,
"cds_start": 241,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966521.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"transcript": "ENST00000966524.1",
"protein_id": "ENSP00000636583.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 930,
"cds_start": 241,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966524.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"transcript": "ENST00000907797.1",
"protein_id": "ENSP00000577856.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 928,
"cds_start": 241,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907797.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"transcript": "NM_001388080.1",
"protein_id": "NP_001375009.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 927,
"cds_start": 241,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388080.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"transcript": "ENST00000907800.1",
"protein_id": "ENSP00000577859.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 927,
"cds_start": 241,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907800.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"transcript": "NM_001388081.1",
"protein_id": "NP_001375010.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 923,
"cds_start": 241,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388081.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"transcript": "ENST00000907799.1",
"protein_id": "ENSP00000577858.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 923,
"cds_start": 241,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907799.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"transcript": "ENST00000907794.1",
"protein_id": "ENSP00000577853.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 921,
"cds_start": 241,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907794.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"transcript": "NM_001388082.1",
"protein_id": "NP_001375011.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 904,
"cds_start": 241,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388082.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"transcript": "ENST00000907798.1",
"protein_id": "ENSP00000577857.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 883,
"cds_start": 241,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907798.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"transcript": "NM_001388083.1",
"protein_id": "NP_001375012.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 878,
"cds_start": 241,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388083.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"transcript": "NM_001388084.1",
"protein_id": "NP_001375013.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 878,
"cds_start": 241,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388084.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Ile",
"transcript": "ENST00000907793.1",
"protein_id": "ENSP00000577852.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 878,
"cds_start": 241,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907793.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
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}