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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: 10-50343963-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=50343963&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 50343963,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_147156.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "NM_147156.4",
"protein_id": "NP_671512.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361781.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147156.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000361781.7",
"protein_id": "ENSP00000354829.2",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_147156.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361781.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000361543.3",
"protein_id": "ENSP00000355235.2",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 241,
"cds_start": 152,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361543.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "n.152G>T",
"hgvs_p": null,
"transcript": "ENST00000626236.2",
"protein_id": "ENSP00000486310.1",
"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": "ENST00000626236.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000609445.6",
"protein_id": "ENSP00000521043.1",
"transcript_support_level": 4,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000609445.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000892763.1",
"protein_id": "ENSP00000562822.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892763.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000892764.1",
"protein_id": "ENSP00000562823.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892764.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000892765.1",
"protein_id": "ENSP00000562824.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892765.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000892766.1",
"protein_id": "ENSP00000562825.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892766.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000892767.1",
"protein_id": "ENSP00000562826.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892767.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000892768.1",
"protein_id": "ENSP00000562827.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892768.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000892769.1",
"protein_id": "ENSP00000562828.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892769.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000892770.1",
"protein_id": "ENSP00000562829.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892770.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000892771.1",
"protein_id": "ENSP00000562830.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892771.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000892772.1",
"protein_id": "ENSP00000562831.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892772.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000892773.1",
"protein_id": "ENSP00000562832.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892773.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000892774.1",
"protein_id": "ENSP00000562833.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892774.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000892775.1",
"protein_id": "ENSP00000562834.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892775.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000892776.1",
"protein_id": "ENSP00000562835.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892776.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000892777.1",
"protein_id": "ENSP00000562836.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892777.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000892778.1",
"protein_id": "ENSP00000562837.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892778.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS1",
"gene_hgnc_id": 29799,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000892779.1",
"protein_id": "ENSP00000562838.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 413,
"cds_start": 152,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"pathogenic_score": 2,
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_147156.4",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": -2,
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000795389.1",
"gene_symbol": "ENSG00000286401",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not specified",
"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
}