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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: 16-68370934-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=68370934&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 68370934,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018667.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "NM_018667.4",
"protein_id": "NP_061137.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 655,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000219334.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018667.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "ENST00000219334.10",
"protein_id": "ENSP00000219334.5",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 655,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018667.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000219334.10"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "ENST00000563226.1",
"protein_id": "ENSP00000455955.1",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 647,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563226.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "ENST00000568373.5",
"protein_id": "ENSP00000457422.1",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 638,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568373.5"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.71G>A",
"hgvs_p": "p.Trp24*",
"transcript": "ENST00000574662.1",
"protein_id": "ENSP00000459317.1",
"transcript_support_level": 3,
"aa_start": 24,
"aa_end": null,
"aa_length": 206,
"cds_start": 71,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574662.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "ENST00000879593.1",
"protein_id": "ENSP00000549652.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 655,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879593.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "ENST00000879594.1",
"protein_id": "ENSP00000549653.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 655,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879594.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "ENST00000879595.1",
"protein_id": "ENSP00000549654.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 655,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879595.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "ENST00000879596.1",
"protein_id": "ENSP00000549655.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 655,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879596.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "ENST00000879597.1",
"protein_id": "ENSP00000549656.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 655,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879597.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "ENST00000879598.1",
"protein_id": "ENSP00000549657.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 655,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879598.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "ENST00000879599.1",
"protein_id": "ENSP00000549658.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 655,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879599.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "ENST00000879601.1",
"protein_id": "ENSP00000549660.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 655,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879601.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "ENST00000879602.1",
"protein_id": "ENSP00000549661.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 655,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879602.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "ENST00000879603.1",
"protein_id": "ENSP00000549662.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 655,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879603.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "ENST00000955003.1",
"protein_id": "ENSP00000625062.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 655,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955003.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "ENST00000955004.1",
"protein_id": "ENSP00000625063.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 655,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955004.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "ENST00000955005.1",
"protein_id": "ENSP00000625064.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 655,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955005.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "ENST00000879600.1",
"protein_id": "ENSP00000549659.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 630,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879600.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "XM_005256032.4",
"protein_id": "XP_005256089.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 655,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256032.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "XM_011523207.2",
"protein_id": "XP_011521509.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 655,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523207.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMPD3",
"gene_hgnc_id": 14240,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Met416Ile",
"transcript": "XM_017023406.2",
"protein_id": "XP_016878895.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 655,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_018667.4",
"gene_symbol": "SMPD3",
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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
}