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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: 17-75667380-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75667380&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75667380,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000584667.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"transcript": "NM_013260.8",
"protein_id": "NP_037392.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 308,
"cds_start": 8,
"cds_end": null,
"cds_length": 927,
"cdna_start": 43,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": "ENST00000584667.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"transcript": "ENST00000584667.6",
"protein_id": "ENSP00000462116.1",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 308,
"cds_start": 8,
"cds_end": null,
"cds_length": 927,
"cdna_start": 43,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": "NM_013260.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "n.15G>T",
"hgvs_p": null,
"transcript": "ENST00000578288.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "n.8G>T",
"hgvs_p": null,
"transcript": "ENST00000582022.5",
"protein_id": "ENSP00000462166.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"transcript": "NM_001301855.2",
"protein_id": "NP_001288784.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 342,
"cds_start": 8,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 43,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"transcript": "NM_001301839.2",
"protein_id": "NP_001288768.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 292,
"cds_start": 8,
"cds_end": null,
"cds_length": 879,
"cdna_start": 43,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"transcript": "ENST00000355423.7",
"protein_id": "ENSP00000347592.3",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 292,
"cds_start": 8,
"cds_end": null,
"cds_length": 879,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"transcript": "XM_011524693.4",
"protein_id": "XP_011522995.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 335,
"cds_start": 8,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 43,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"transcript": "XM_011524694.3",
"protein_id": "XP_011522996.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 319,
"cds_start": 8,
"cds_end": null,
"cds_length": 960,
"cdna_start": 43,
"cdna_end": null,
"cdna_length": 2533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "c.8G>T",
"hgvs_p": "p.Gly3Val",
"transcript": "XM_047435872.1",
"protein_id": "XP_047291828.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 162,
"cds_start": 8,
"cds_end": null,
"cds_length": 489,
"cdna_start": 43,
"cdna_end": null,
"cdna_length": 557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "n.8G>T",
"hgvs_p": null,
"transcript": "ENST00000293208.13",
"protein_id": "ENSP00000293208.9",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "n.8G>T",
"hgvs_p": null,
"transcript": "ENST00000542343.5",
"protein_id": "ENSP00000446117.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "n.30G>T",
"hgvs_p": null,
"transcript": "ENST00000577292.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "n.35G>T",
"hgvs_p": null,
"transcript": "ENST00000578354.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "n.15G>T",
"hgvs_p": null,
"transcript": "ENST00000579864.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "n.8G>T",
"hgvs_p": null,
"transcript": "ENST00000579877.5",
"protein_id": "ENSP00000464459.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "n.5G>T",
"hgvs_p": null,
"transcript": "ENST00000580322.5",
"protein_id": "ENSP00000463545.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "n.11G>T",
"hgvs_p": null,
"transcript": "ENST00000580484.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "n.8G>T",
"hgvs_p": null,
"transcript": "ENST00000583170.5",
"protein_id": "ENSP00000462825.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "n.8G>T",
"hgvs_p": null,
"transcript": "ENST00000583737.5",
"protein_id": "ENSP00000463261.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "n.30G>T",
"hgvs_p": null,
"transcript": "ENST00000584861.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "n.43G>T",
"hgvs_p": null,
"transcript": "NR_126036.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAP30BP",
"gene_hgnc_id": 30785,
"hgvs_c": "n.43G>T",
"hgvs_p": null,
"transcript": "NR_126037.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2387,
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}