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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: 8-144099319-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144099319&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144099319,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_030974.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Pro294Ser",
"transcript": "NM_030974.4",
"protein_id": "NP_112236.3",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 387,
"cds_start": 880,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398712.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030974.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Pro294Ser",
"transcript": "ENST00000398712.7",
"protein_id": "ENSP00000381698.2",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 387,
"cds_start": 880,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "n.880C>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000359551.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Pro296Ser",
"transcript": "ENST00000964196.1",
"protein_id": "ENSP00000634255.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 389,
"cds_start": 886,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964196.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Pro294Ser",
"transcript": "ENST00000876468.1",
"protein_id": "ENSP00000546527.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 387,
"cds_start": 880,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876468.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Pro294Ser",
"transcript": "ENST00000876469.1",
"protein_id": "ENSP00000546528.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 387,
"cds_start": 880,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876469.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Pro294Ser",
"transcript": "ENST00000876472.1",
"protein_id": "ENSP00000546531.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 387,
"cds_start": 880,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876472.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Pro294Ser",
"transcript": "ENST00000922422.1",
"protein_id": "ENSP00000592481.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 387,
"cds_start": 880,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922422.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Pro294Ser",
"transcript": "ENST00000964198.1",
"protein_id": "ENSP00000634257.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 387,
"cds_start": 880,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964198.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Pro293Ser",
"transcript": "ENST00000876473.1",
"protein_id": "ENSP00000546532.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 386,
"cds_start": 877,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876473.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Pro294Ser",
"transcript": "ENST00000876467.1",
"protein_id": "ENSP00000546526.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 385,
"cds_start": 880,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876467.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Pro294Ser",
"transcript": "ENST00000876470.1",
"protein_id": "ENSP00000546529.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 385,
"cds_start": 880,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876470.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Pro294Ser",
"transcript": "ENST00000876477.1",
"protein_id": "ENSP00000546536.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 385,
"cds_start": 880,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876477.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Pro294Ser",
"transcript": "ENST00000964195.1",
"protein_id": "ENSP00000634254.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 385,
"cds_start": 880,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964195.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Pro293Ser",
"transcript": "ENST00000964199.1",
"protein_id": "ENSP00000634258.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 384,
"cds_start": 877,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964199.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Pro290Ser",
"transcript": "ENST00000964200.1",
"protein_id": "ENSP00000634259.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 383,
"cds_start": 868,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964200.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Pro281Ser",
"transcript": "ENST00000876474.1",
"protein_id": "ENSP00000546533.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 374,
"cds_start": 841,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876474.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Pro281Ser",
"transcript": "ENST00000964197.1",
"protein_id": "ENSP00000634256.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 372,
"cds_start": 841,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964197.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Pro294Ser",
"transcript": "ENST00000876471.1",
"protein_id": "ENSP00000546530.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 359,
"cds_start": 880,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876471.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.760C>T",
"hgvs_p": "p.Pro254Ser",
"transcript": "ENST00000964201.1",
"protein_id": "ENSP00000634260.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 347,
"cds_start": 760,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964201.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.4C>T",
"hgvs_p": "p.Pro2Ser",
"transcript": "ENST00000532536.5",
"protein_id": "ENSP00000432355.1",
"transcript_support_level": 3,
"aa_start": 2,
"aa_end": null,
"aa_length": 95,
"cds_start": 4,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532536.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "SHARPIN",
"gene_hgnc_id": 25321,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Pro294Ser",
"transcript": "XM_047422289.1",
"protein_id": "XP_047278245.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 387,
"cds_start": 880,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"feature": "XM_047422289.1"
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -20,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
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"BA1"
],
"verdict": "Benign",
"transcript": "NM_030974.4",
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"effects": [
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],
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}