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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: 17-40019891-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40019891&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 40019891,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001330211.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2747C>T",
"hgvs_p": "p.Thr916Ile",
"transcript": "NM_014815.4",
"protein_id": "NP_055630.2",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 989,
"cds_start": 2747,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394128.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014815.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2747C>T",
"hgvs_p": "p.Thr916Ile",
"transcript": "ENST00000394128.7",
"protein_id": "ENSP00000377686.2",
"transcript_support_level": 1,
"aa_start": 916,
"aa_end": null,
"aa_length": 989,
"cds_start": 2747,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014815.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394128.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2822C>T",
"hgvs_p": "p.Thr941Ile",
"transcript": "ENST00000394126.5",
"protein_id": "ENSP00000377684.1",
"transcript_support_level": 1,
"aa_start": 941,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2822,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394126.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Thr219Ile",
"transcript": "ENST00000422942.6",
"protein_id": "ENSP00000393464.2",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 292,
"cds_start": 656,
"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": "ENST00000422942.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2840C>T",
"hgvs_p": "p.Thr947Ile",
"transcript": "ENST00000887917.1",
"protein_id": "ENSP00000557976.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2840,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887917.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2837C>T",
"hgvs_p": "p.Thr946Ile",
"transcript": "ENST00000972430.1",
"protein_id": "ENSP00000642489.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2837,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972430.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2828C>T",
"hgvs_p": "p.Thr943Ile",
"transcript": "ENST00000887919.1",
"protein_id": "ENSP00000557978.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2828,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887919.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2804C>T",
"hgvs_p": "p.Thr935Ile",
"transcript": "NM_001330211.2",
"protein_id": "NP_001317140.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2804,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330211.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2804C>T",
"hgvs_p": "p.Thr935Ile",
"transcript": "ENST00000501516.7",
"protein_id": "ENSP00000440100.2",
"transcript_support_level": 5,
"aa_start": 935,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2804,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000501516.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2801C>T",
"hgvs_p": "p.Thr934Ile",
"transcript": "ENST00000887920.1",
"protein_id": "ENSP00000557979.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2801,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887920.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2801C>T",
"hgvs_p": "p.Thr934Ile",
"transcript": "ENST00000931327.1",
"protein_id": "ENSP00000601386.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2801,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931327.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2801C>T",
"hgvs_p": "p.Thr934Ile",
"transcript": "ENST00000972426.1",
"protein_id": "ENSP00000642485.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2801,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972426.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2783C>T",
"hgvs_p": "p.Thr928Ile",
"transcript": "ENST00000887916.1",
"protein_id": "ENSP00000557975.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2783,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887916.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2783C>T",
"hgvs_p": "p.Thr928Ile",
"transcript": "ENST00000931326.1",
"protein_id": "ENSP00000601385.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2783,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931326.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2783C>T",
"hgvs_p": "p.Thr928Ile",
"transcript": "ENST00000931328.1",
"protein_id": "ENSP00000601387.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2783,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931328.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2783C>T",
"hgvs_p": "p.Thr928Ile",
"transcript": "ENST00000972427.1",
"protein_id": "ENSP00000642486.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2783,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972427.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2780C>T",
"hgvs_p": "p.Thr927Ile",
"transcript": "ENST00000887918.1",
"protein_id": "ENSP00000557977.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2780,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887918.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2768C>T",
"hgvs_p": "p.Thr923Ile",
"transcript": "ENST00000972429.1",
"protein_id": "ENSP00000642488.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 996,
"cds_start": 2768,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972429.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2765C>T",
"hgvs_p": "p.Thr922Ile",
"transcript": "ENST00000972431.1",
"protein_id": "ENSP00000642490.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 995,
"cds_start": 2765,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972431.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2747C>T",
"hgvs_p": "p.Thr916Ile",
"transcript": "ENST00000931324.1",
"protein_id": "ENSP00000601383.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 989,
"cds_start": 2747,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931324.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2747C>T",
"hgvs_p": "p.Thr916Ile",
"transcript": "ENST00000931329.1",
"protein_id": "ENSP00000601388.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 989,
"cds_start": 2747,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931329.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2747C>T",
"hgvs_p": "p.Thr916Ile",
"transcript": "ENST00000972424.1",
"protein_id": "ENSP00000642483.1",
"transcript_support_level": null,
"aa_start": 916,
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