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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: 17-81099973-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81099973&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81099973,
"ref": "G",
"alt": "C",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001385157.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.535G>C",
"hgvs_p": "p.Val179Leu",
"transcript": "NM_001144888.2",
"protein_id": "NP_001138360.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 534,
"cds_start": 535,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000428708.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144888.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.535G>C",
"hgvs_p": "p.Val179Leu",
"transcript": "ENST00000428708.7",
"protein_id": "ENSP00000401022.2",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 534,
"cds_start": 535,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001144888.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428708.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.535G>C",
"hgvs_p": "p.Val179Leu",
"transcript": "ENST00000321300.10",
"protein_id": "ENSP00000316338.6",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 552,
"cds_start": 535,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321300.10"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.535G>C",
"hgvs_p": "p.Val179Leu",
"transcript": "ENST00000321280.11",
"protein_id": "ENSP00000315685.7",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 521,
"cds_start": 535,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321280.11"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.535G>C",
"hgvs_p": "p.Val179Leu",
"transcript": "ENST00000435091.7",
"protein_id": "ENSP00000413069.3",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 520,
"cds_start": 535,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435091.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.535G>C",
"hgvs_p": "p.Val179Leu",
"transcript": "ENST00000575712.5",
"protein_id": "ENSP00000458964.1",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 512,
"cds_start": 535,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575712.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.-195G>C",
"hgvs_p": null,
"transcript": "NM_001385157.1",
"protein_id": "NP_001372086.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385157.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.-195G>C",
"hgvs_p": null,
"transcript": "NM_001385158.1",
"protein_id": "NP_001372087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": null,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385158.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.-195G>C",
"hgvs_p": null,
"transcript": "NM_001385159.1",
"protein_id": "NP_001372088.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": null,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385159.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.-195G>C",
"hgvs_p": null,
"transcript": "ENST00000576756.5",
"protein_id": "ENSP00000458440.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 129,
"cds_start": null,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576756.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.-195G>C",
"hgvs_p": null,
"transcript": "XM_011524195.2",
"protein_id": "XP_011522497.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524195.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.-195G>C",
"hgvs_p": null,
"transcript": "XM_011524196.2",
"protein_id": "XP_011522498.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524196.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.-195G>C",
"hgvs_p": null,
"transcript": "XM_017024019.2",
"protein_id": "XP_016879508.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024019.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Val212Leu",
"transcript": "NM_001385129.1",
"protein_id": "NP_001372058.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 585,
"cds_start": 634,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385129.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Val212Leu",
"transcript": "NM_001385130.1",
"protein_id": "NP_001372059.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 567,
"cds_start": 634,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385130.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Val212Leu",
"transcript": "ENST00000892758.1",
"protein_id": "ENSP00000562817.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 567,
"cds_start": 634,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892758.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.535G>C",
"hgvs_p": "p.Val179Leu",
"transcript": "NM_001385131.1",
"protein_id": "NP_001372060.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 565,
"cds_start": 535,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385131.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Val212Leu",
"transcript": "NM_001385132.1",
"protein_id": "NP_001372061.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 561,
"cds_start": 634,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385132.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Val212Leu",
"transcript": "NM_001385133.1",
"protein_id": "NP_001372062.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 555,
"cds_start": 634,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385133.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Val212Leu",
"transcript": "NM_001385134.1",
"protein_id": "NP_001372063.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 554,
"cds_start": 634,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385134.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Val212Leu",
"transcript": "NM_001385135.1",
"protein_id": "NP_001372064.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 554,
"cds_start": 634,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385135.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Val212Leu",
"transcript": "NM_001385136.1",
"protein_id": "NP_001372065.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 553,
"cds_start": 634,
"cds_end": null,
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}
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}