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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: 8-144099544-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144099544&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144099544,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_030974.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "NM_030974.4",
"protein_id": "NP_112236.3",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 387,
"cds_start": 734,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 1348,
"mane_select": "ENST00000398712.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030974.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "ENST00000398712.7",
"protein_id": "ENSP00000381698.2",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 387,
"cds_start": 734,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 1348,
"mane_select": "NM_030974.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398712.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "n.734A>G",
"hgvs_p": null,
"transcript": "ENST00000359551.6",
"protein_id": "ENSP00000352551.6",
"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": 1687,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000359551.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.740A>G",
"hgvs_p": "p.His247Arg",
"transcript": "ENST00000964196.1",
"protein_id": "ENSP00000634255.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 389,
"cds_start": 740,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1867,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964196.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "ENST00000876468.1",
"protein_id": "ENSP00000546527.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 387,
"cds_start": 734,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876468.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "ENST00000876469.1",
"protein_id": "ENSP00000546528.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 387,
"cds_start": 734,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 1753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876469.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "ENST00000876472.1",
"protein_id": "ENSP00000546531.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 387,
"cds_start": 734,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876472.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "ENST00000922422.1",
"protein_id": "ENSP00000592481.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 387,
"cds_start": 734,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922422.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "ENST00000964198.1",
"protein_id": "ENSP00000634257.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 387,
"cds_start": 734,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 1751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964198.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.731A>G",
"hgvs_p": "p.His244Arg",
"transcript": "ENST00000876473.1",
"protein_id": "ENSP00000546532.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 386,
"cds_start": 731,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876473.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "ENST00000876467.1",
"protein_id": "ENSP00000546526.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 385,
"cds_start": 734,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1878,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876467.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "ENST00000876470.1",
"protein_id": "ENSP00000546529.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 385,
"cds_start": 734,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1886,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876470.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "ENST00000876477.1",
"protein_id": "ENSP00000546536.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 385,
"cds_start": 734,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 1863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876477.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "ENST00000964195.1",
"protein_id": "ENSP00000634254.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 385,
"cds_start": 734,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964195.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.731A>G",
"hgvs_p": "p.His244Arg",
"transcript": "ENST00000964199.1",
"protein_id": "ENSP00000634258.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 384,
"cds_start": 731,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 1337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964199.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.722A>G",
"hgvs_p": "p.His241Arg",
"transcript": "ENST00000964200.1",
"protein_id": "ENSP00000634259.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 383,
"cds_start": 722,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964200.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "ENST00000876471.1",
"protein_id": "ENSP00000546530.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 359,
"cds_start": 734,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1866,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876471.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.614A>G",
"hgvs_p": "p.His205Arg",
"transcript": "ENST00000964201.1",
"protein_id": "ENSP00000634260.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 347,
"cds_start": 614,
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"cdna_start": 626,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964201.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "ENST00000922423.1",
"protein_id": "ENSP00000592482.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 342,
"cds_start": 734,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 1203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922423.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "ENST00000876475.1",
"protein_id": "ENSP00000546534.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 336,
"cds_start": 734,
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"cds_length": 1011,
"cdna_start": 1214,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876475.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "XM_047422289.1",
"protein_id": "XP_047278245.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 387,
"cds_start": 734,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 1425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422289.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.734A>G",
"hgvs_p": "p.His245Arg",
"transcript": "XM_047422290.1",
"protein_id": "XP_047278246.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 385,
"cds_start": 734,
"cds_end": null,
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{
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}