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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: 17-17814271-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17814271&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17814271,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001005291.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2875A>C",
"hgvs_p": "p.Thr959Pro",
"transcript": "NM_004176.5",
"protein_id": "NP_004167.3",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1147,
"cds_start": 2875,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261646.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004176.5"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2875A>C",
"hgvs_p": "p.Thr959Pro",
"transcript": "ENST00000261646.11",
"protein_id": "ENSP00000261646.5",
"transcript_support_level": 1,
"aa_start": 959,
"aa_end": null,
"aa_length": 1147,
"cds_start": 2875,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004176.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261646.11"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2965A>C",
"hgvs_p": "p.Thr989Pro",
"transcript": "ENST00000355815.8",
"protein_id": "ENSP00000348069.4",
"transcript_support_level": 1,
"aa_start": 989,
"aa_end": null,
"aa_length": 1177,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355815.8"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2965A>C",
"hgvs_p": "p.Thr989Pro",
"transcript": "NM_001005291.3",
"protein_id": "NP_001005291.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1177,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005291.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2962A>C",
"hgvs_p": "p.Thr988Pro",
"transcript": "NM_001388385.1",
"protein_id": "NP_001375314.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1176,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388385.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2959A>C",
"hgvs_p": "p.Thr987Pro",
"transcript": "ENST00000892469.1",
"protein_id": "ENSP00000562529.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1175,
"cds_start": 2959,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892469.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2875A>C",
"hgvs_p": "p.Thr959Pro",
"transcript": "NM_001388386.1",
"protein_id": "NP_001375315.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2875,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388386.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2914A>C",
"hgvs_p": "p.Thr972Pro",
"transcript": "NM_001388387.1",
"protein_id": "NP_001375316.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2914,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388387.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2830A>C",
"hgvs_p": "p.Thr944Pro",
"transcript": "NM_001388388.1",
"protein_id": "NP_001375317.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2830,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388388.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2872A>C",
"hgvs_p": "p.Thr958Pro",
"transcript": "ENST00000892473.1",
"protein_id": "ENSP00000562532.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 1146,
"cds_start": 2872,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892473.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2869A>C",
"hgvs_p": "p.Thr957Pro",
"transcript": "NM_001388389.1",
"protein_id": "NP_001375318.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1145,
"cds_start": 2869,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388389.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2869A>C",
"hgvs_p": "p.Thr957Pro",
"transcript": "ENST00000892472.1",
"protein_id": "ENSP00000562530.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1145,
"cds_start": 2869,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892472.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2857A>C",
"hgvs_p": "p.Thr953Pro",
"transcript": "NM_001388390.1",
"protein_id": "NP_001375319.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2857,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388390.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2857A>C",
"hgvs_p": "p.Thr953Pro",
"transcript": "ENST00000892477.1",
"protein_id": "ENSP00000562536.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2857,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892477.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2848A>C",
"hgvs_p": "p.Thr950Pro",
"transcript": "NM_001388391.1",
"protein_id": "NP_001375320.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1138,
"cds_start": 2848,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388391.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2848A>C",
"hgvs_p": "p.Thr950Pro",
"transcript": "ENST00000918821.1",
"protein_id": "ENSP00000588880.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1138,
"cds_start": 2848,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918821.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2812A>C",
"hgvs_p": "p.Thr938Pro",
"transcript": "ENST00000892480.1",
"protein_id": "ENSP00000562539.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2812,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892480.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2803A>C",
"hgvs_p": "p.Thr935Pro",
"transcript": "NM_001321096.3",
"protein_id": "NP_001308025.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2803,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321096.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2731A>C",
"hgvs_p": "p.Thr911Pro",
"transcript": "ENST00000918822.1",
"protein_id": "ENSP00000588881.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2731,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918822.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2653A>C",
"hgvs_p": "p.Thr885Pro",
"transcript": "NM_001388392.1",
"protein_id": "NP_001375321.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1073,
"cds_start": 2653,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388392.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2875A>C",
"hgvs_p": "p.Thr959Pro",
"transcript": "ENST00000395757.6",
"protein_id": "ENSP00000379106.2",
"transcript_support_level": 2,
"aa_start": 959,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2875,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395757.6"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF1",
"gene_hgnc_id": 11289,
"hgvs_c": "c.2494A>C",
"hgvs_p": "p.Thr832Pro",
"transcript": "NM_001388393.1",
"protein_id": "NP_001375322.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 1020,
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}