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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: 7-75112464-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=75112464&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 75112464,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001368302.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "NM_001003795.3",
"protein_id": "NP_001003795.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 949,
"cds_start": 167,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000472837.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003795.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "ENST00000472837.7",
"protein_id": "ENSP00000480524.1",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 949,
"cds_start": 167,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001003795.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472837.7"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "ENST00000619142.4",
"protein_id": "ENSP00000480037.1",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 437,
"cds_start": 167,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619142.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "ENST00000614064.4",
"protein_id": "ENSP00000481706.1",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 108,
"cds_start": 167,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614064.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "n.167T>C",
"hgvs_p": null,
"transcript": "ENST00000418185.6",
"protein_id": "ENSP00000411454.3",
"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": "ENST00000418185.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.653T>C",
"hgvs_p": "p.Val218Ala",
"transcript": "ENST00000651028.1",
"protein_id": "ENSP00000499147.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 1116,
"cds_start": 653,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651028.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.653T>C",
"hgvs_p": "p.Val218Ala",
"transcript": "NM_001368302.1",
"protein_id": "NP_001355231.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 1111,
"cds_start": 653,
"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_001368302.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "ENST00000888756.1",
"protein_id": "ENSP00000558815.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 954,
"cds_start": 167,
"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": "ENST00000888756.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "ENST00000888762.1",
"protein_id": "ENSP00000558821.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 949,
"cds_start": 167,
"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": "ENST00000888762.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "ENST00000888768.1",
"protein_id": "ENSP00000558827.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 949,
"cds_start": 167,
"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": "ENST00000888768.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "ENST00000958673.1",
"protein_id": "ENSP00000628732.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 932,
"cds_start": 167,
"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": "ENST00000958673.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "ENST00000958680.1",
"protein_id": "ENSP00000628739.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 928,
"cds_start": 167,
"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": "ENST00000958680.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "ENST00000888767.1",
"protein_id": "ENSP00000558826.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 927,
"cds_start": 167,
"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": "ENST00000888767.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "ENST00000888764.1",
"protein_id": "ENSP00000558823.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 926,
"cds_start": 167,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888764.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "ENST00000888759.1",
"protein_id": "ENSP00000558818.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 923,
"cds_start": 167,
"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": "ENST00000888759.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "ENST00000888761.1",
"protein_id": "ENSP00000558820.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 923,
"cds_start": 167,
"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": "ENST00000888761.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "ENST00000888758.1",
"protein_id": "ENSP00000558817.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 921,
"cds_start": 167,
"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": "ENST00000888758.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "ENST00000888763.1",
"protein_id": "ENSP00000558822.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 909,
"cds_start": 167,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888763.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "ENST00000958677.1",
"protein_id": "ENSP00000628736.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 908,
"cds_start": 167,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958677.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "ENST00000888760.1",
"protein_id": "ENSP00000558819.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 883,
"cds_start": 167,
"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": "ENST00000888760.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "ENST00000958675.1",
"protein_id": "ENSP00000628734.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 883,
"cds_start": 167,
"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": "ENST00000958675.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2B",
"gene_hgnc_id": 33125,
"hgvs_c": "c.167T>C",
"hgvs_p": "p.Val56Ala",
"transcript": "ENST00000888757.1",
"protein_id": "ENSP00000558816.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 878,
"cds_start": 167,
"cds_end": null,
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"cdna_start": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}