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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: 1-52899212-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=52899212&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 52899212,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001198961.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.715G>T",
"hgvs_p": "p.Val239Leu",
"transcript": "NM_001198961.2",
"protein_id": "NP_001185890.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 292,
"cds_start": 715,
"cds_end": null,
"cds_length": 879,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": "ENST00000371522.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.715G>T",
"hgvs_p": "p.Val239Leu",
"transcript": "ENST00000371522.9",
"protein_id": "ENSP00000360577.4",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 292,
"cds_start": 715,
"cds_end": null,
"cds_length": 879,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": "NM_001198961.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "n.*926G>T",
"hgvs_p": null,
"transcript": "ENST00000371520.5",
"protein_id": "ENSP00000360575.1",
"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": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "n.*926G>T",
"hgvs_p": null,
"transcript": "ENST00000371520.5",
"protein_id": "ENSP00000360575.1",
"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": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.622G>T",
"hgvs_p": "p.Val208Leu",
"transcript": "NM_018281.4",
"protein_id": "NP_060751.2",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 261,
"cds_start": 622,
"cds_end": null,
"cds_length": 786,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.622G>T",
"hgvs_p": "p.Val208Leu",
"transcript": "ENST00000358358.9",
"protein_id": "ENSP00000351125.5",
"transcript_support_level": 2,
"aa_start": 208,
"aa_end": null,
"aa_length": 261,
"cds_start": 622,
"cds_end": null,
"cds_length": 786,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 1126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.484G>T",
"hgvs_p": "p.Val162Leu",
"transcript": "NM_001319958.2",
"protein_id": "NP_001306887.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 215,
"cds_start": 484,
"cds_end": null,
"cds_length": 648,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.715G>T",
"hgvs_p": "p.Val239Leu",
"transcript": "XM_024448153.2",
"protein_id": "XP_024303921.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 276,
"cds_start": 715,
"cds_end": null,
"cds_length": 831,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.565G>T",
"hgvs_p": "p.Val189Leu",
"transcript": "XM_024448159.2",
"protein_id": "XP_024303927.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 268,
"cds_start": 565,
"cds_end": null,
"cds_length": 807,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.715G>T",
"hgvs_p": "p.Val239Leu",
"transcript": "XM_047424331.1",
"protein_id": "XP_047280287.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 256,
"cds_start": 715,
"cds_end": null,
"cds_length": 771,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.577G>T",
"hgvs_p": "p.Val193Leu",
"transcript": "XM_047424333.1",
"protein_id": "XP_047280289.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 246,
"cds_start": 577,
"cds_end": null,
"cds_length": 741,
"cdna_start": 8475,
"cdna_end": null,
"cdna_length": 9249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.577G>T",
"hgvs_p": "p.Val193Leu",
"transcript": "XM_047424335.1",
"protein_id": "XP_047280291.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 246,
"cds_start": 577,
"cds_end": null,
"cds_length": 741,
"cdna_start": 2425,
"cdna_end": null,
"cdna_length": 3199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.577G>T",
"hgvs_p": "p.Val193Leu",
"transcript": "XM_047424344.1",
"protein_id": "XP_047280300.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 246,
"cds_start": 577,
"cds_end": null,
"cds_length": 741,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.622G>T",
"hgvs_p": "p.Val208Leu",
"transcript": "XM_024448160.2",
"protein_id": "XP_024303928.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 245,
"cds_start": 622,
"cds_end": null,
"cds_length": 738,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 1415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.565G>T",
"hgvs_p": "p.Val189Leu",
"transcript": "XM_024448161.2",
"protein_id": "XP_024303929.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 242,
"cds_start": 565,
"cds_end": null,
"cds_length": 729,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 1406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.565G>T",
"hgvs_p": "p.Val189Leu",
"transcript": "XM_047424372.1",
"protein_id": "XP_047280328.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 226,
"cds_start": 565,
"cds_end": null,
"cds_length": 681,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 1358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.484G>T",
"hgvs_p": "p.Val162Leu",
"transcript": "XM_047424373.1",
"protein_id": "XP_047280329.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 215,
"cds_start": 484,
"cds_end": null,
"cds_length": 648,
"cdna_start": 8382,
"cdna_end": null,
"cdna_length": 9156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.484G>T",
"hgvs_p": "p.Val162Leu",
"transcript": "XM_047424374.1",
"protein_id": "XP_047280330.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 215,
"cds_start": 484,
"cds_end": null,
"cds_length": 648,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 1764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Val143Leu",
"transcript": "XM_047424375.1",
"protein_id": "XP_047280331.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 196,
"cds_start": 427,
"cds_end": null,
"cds_length": 591,
"cdna_start": 8325,
"cdna_end": null,
"cdna_length": 9099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Val143Leu",
"transcript": "XM_047424376.1",
"protein_id": "XP_047280332.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 196,
"cds_start": 427,
"cds_end": null,
"cds_length": 591,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.427G>T",
"hgvs_p": "p.Val143Leu",
"transcript": "XM_047424379.1",
"protein_id": "XP_047280335.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 180,
"cds_start": 427,
"cds_end": null,
"cds_length": 543,
"cdna_start": 3007,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "n.2232G>T",
"hgvs_p": null,
"transcript": "ENST00000460612.5",
"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": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "n.211G>T",
"hgvs_p": null,
"transcript": "ENST00000463923.5",
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}
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}