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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: 17-7630429-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7630429&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7630429,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001040.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"transcript": "NM_001040.5",
"protein_id": "NP_001031.2",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 402,
"cds_start": 125,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380450.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"transcript": "ENST00000380450.9",
"protein_id": "ENSP00000369816.4",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 402,
"cds_start": 125,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380450.9"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"transcript": "ENST00000441599.6",
"protein_id": "ENSP00000393426.2",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 287,
"cds_start": 125,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441599.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.44C>G",
"hgvs_p": "p.Pro15Arg",
"transcript": "ENST00000576830.5",
"protein_id": "ENSP00000460219.1",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 260,
"cds_start": 44,
"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": "ENST00000576830.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.44C>G",
"hgvs_p": "p.Pro15Arg",
"transcript": "ENST00000571153.5",
"protein_id": "ENSP00000458858.1",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 212,
"cds_start": 44,
"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": "ENST00000571153.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.44C>G",
"hgvs_p": "p.Pro15Arg",
"transcript": "ENST00000576152.1",
"protein_id": "ENSP00000461743.1",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 206,
"cds_start": 44,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576152.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.44C>G",
"hgvs_p": "p.Pro15Arg",
"transcript": "ENST00000575618.5",
"protein_id": "ENSP00000459826.1",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 113,
"cds_start": 44,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575618.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.-50C>G",
"hgvs_p": null,
"transcript": "ENST00000340624.9",
"protein_id": "ENSP00000345675.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340624.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.-50C>G",
"hgvs_p": null,
"transcript": "ENST00000575314.5",
"protein_id": "ENSP00000458559.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575314.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.-50C>G",
"hgvs_p": null,
"transcript": "ENST00000572262.5",
"protein_id": "ENSP00000459999.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": null,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572262.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.-50C>G",
"hgvs_p": null,
"transcript": "ENST00000574539.5",
"protein_id": "ENSP00000458181.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": null,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574539.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.-50C>G",
"hgvs_p": null,
"transcript": "ENST00000570547.5",
"protein_id": "ENSP00000458875.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 229,
"cds_start": null,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570547.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.-50C>G",
"hgvs_p": null,
"transcript": "ENST00000576728.5",
"protein_id": "ENSP00000459620.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576728.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.-50C>G",
"hgvs_p": null,
"transcript": "ENST00000576478.5",
"protein_id": "ENSP00000461133.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": null,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576478.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.-50C>G",
"hgvs_p": null,
"transcript": "ENST00000572182.5",
"protein_id": "ENSP00000458816.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 82,
"cds_start": null,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572182.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "n.*83C>G",
"hgvs_p": null,
"transcript": "ENST00000570527.5",
"protein_id": "ENSP00000461162.1",
"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": "ENST00000570527.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "n.*83C>G",
"hgvs_p": null,
"transcript": "ENST00000570527.5",
"protein_id": "ENSP00000461162.1",
"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": "ENST00000570527.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"transcript": "ENST00000856867.1",
"protein_id": "ENSP00000526926.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 415,
"cds_start": 125,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856867.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"transcript": "ENST00000856862.1",
"protein_id": "ENSP00000526921.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 402,
"cds_start": 125,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856862.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"transcript": "ENST00000856863.1",
"protein_id": "ENSP00000526922.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 402,
"cds_start": 125,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856863.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"transcript": "ENST00000856864.1",
"protein_id": "ENSP00000526923.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 402,
"cds_start": 125,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856864.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"transcript": "ENST00000856865.1",
"protein_id": "ENSP00000526924.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 401,
"cds_start": 125,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856865.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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}
],
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}