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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: 18-47848537-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=47848537&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 47848537,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005901.6",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Cys312Ser",
"transcript": "NM_005901.6",
"protein_id": "NP_005892.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 935,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262160.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005901.6"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Cys312Ser",
"transcript": "ENST00000262160.11",
"protein_id": "ENSP00000262160.6",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 935,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005901.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262160.11"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Cys312Ser",
"transcript": "ENST00000402690.6",
"protein_id": "ENSP00000384449.1",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 935,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402690.6"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.845G>C",
"hgvs_p": "p.Cys282Ser",
"transcript": "ENST00000356825.8",
"protein_id": "ENSP00000349282.4",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 437,
"cds_start": 845,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356825.8"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1172G>C",
"hgvs_p": "p.Cys391Ser",
"transcript": "ENST00000966650.1",
"protein_id": "ENSP00000636709.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 546,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966650.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Cys312Ser",
"transcript": "NM_001003652.4",
"protein_id": "NP_001003652.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 935,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003652.4"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Cys312Ser",
"transcript": "ENST00000878359.1",
"protein_id": "ENSP00000548418.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 935,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878359.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Cys312Ser",
"transcript": "ENST00000878360.1",
"protein_id": "ENSP00000548419.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 935,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878360.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Cys312Ser",
"transcript": "ENST00000878361.1",
"protein_id": "ENSP00000548420.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 935,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878361.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Cys312Ser",
"transcript": "ENST00000878362.1",
"protein_id": "ENSP00000548421.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 935,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878362.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Cys312Ser",
"transcript": "ENST00000878363.1",
"protein_id": "ENSP00000548422.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 935,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878363.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Cys312Ser",
"transcript": "ENST00000878364.1",
"protein_id": "ENSP00000548423.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 935,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878364.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Cys312Ser",
"transcript": "ENST00000878368.1",
"protein_id": "ENSP00000548427.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 935,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878368.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Cys312Ser",
"transcript": "ENST00000878370.1",
"protein_id": "ENSP00000548429.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 935,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878370.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Cys312Ser",
"transcript": "ENST00000878371.1",
"protein_id": "ENSP00000548430.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 935,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878371.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Cys312Ser",
"transcript": "ENST00000936519.1",
"protein_id": "ENSP00000606578.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 935,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936519.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Cys312Ser",
"transcript": "ENST00000936522.1",
"protein_id": "ENSP00000606581.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 935,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936522.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Cys312Ser",
"transcript": "ENST00000936523.1",
"protein_id": "ENSP00000606582.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 935,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936523.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Cys312Ser",
"transcript": "ENST00000966645.1",
"protein_id": "ENSP00000636704.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 935,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966645.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Cys312Ser",
"transcript": "ENST00000966649.1",
"protein_id": "ENSP00000636708.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 935,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966649.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Cys312Ser",
"transcript": "ENST00000966653.1",
"protein_id": "ENSP00000636712.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 467,
"cds_start": 935,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966653.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.926G>C",
"hgvs_p": "p.Cys309Ser",
"transcript": "ENST00000966648.1",
"protein_id": "ENSP00000636707.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 464,
"cds_start": 926,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
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}
],
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}