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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: 18-51058220-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=51058220&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 51058220,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000342988.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Gly255Arg",
"transcript": "NM_005359.6",
"protein_id": "NP_005350.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 552,
"cds_start": 763,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 8772,
"mane_select": "ENST00000342988.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Gly255Arg",
"transcript": "ENST00000342988.8",
"protein_id": "ENSP00000341551.3",
"transcript_support_level": 5,
"aa_start": 255,
"aa_end": null,
"aa_length": 552,
"cds_start": 763,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 8772,
"mane_select": "NM_005359.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.2764G>C",
"hgvs_p": null,
"transcript": "ENST00000591126.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Gly255Arg",
"transcript": "ENST00000714264.1",
"protein_id": "ENSP00000519545.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 579,
"cds_start": 763,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 3592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Gly281Arg",
"transcript": "ENST00000714270.1",
"protein_id": "ENSP00000519551.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 578,
"cds_start": 841,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 3573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.802G>C",
"hgvs_p": "p.Gly268Arg",
"transcript": "ENST00000714261.1",
"protein_id": "ENSP00000519542.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 565,
"cds_start": 802,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Gly255Arg",
"transcript": "NM_001407041.1",
"protein_id": "NP_001393970.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 552,
"cds_start": 763,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 8357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Gly255Arg",
"transcript": "NM_001407042.1",
"protein_id": "NP_001393971.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 552,
"cds_start": 763,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 8425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Gly255Arg",
"transcript": "ENST00000398417.6",
"protein_id": "ENSP00000381452.1",
"transcript_support_level": 5,
"aa_start": 255,
"aa_end": null,
"aa_length": 552,
"cds_start": 763,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 8495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Gly255Arg",
"transcript": "ENST00000588860.6",
"protein_id": "ENSP00000465878.2",
"transcript_support_level": 4,
"aa_start": 255,
"aa_end": null,
"aa_length": 552,
"cds_start": 763,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 8474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Gly255Arg",
"transcript": "ENST00000589076.6",
"protein_id": "ENSP00000466934.2",
"transcript_support_level": 5,
"aa_start": 255,
"aa_end": null,
"aa_length": 552,
"cds_start": 763,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 8538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Gly255Arg",
"transcript": "ENST00000589941.2",
"protein_id": "ENSP00000465874.2",
"transcript_support_level": 3,
"aa_start": 255,
"aa_end": null,
"aa_length": 552,
"cds_start": 763,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 8941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Gly255Arg",
"transcript": "ENST00000590061.2",
"protein_id": "ENSP00000464772.2",
"transcript_support_level": 4,
"aa_start": 255,
"aa_end": null,
"aa_length": 552,
"cds_start": 763,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 8357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Gly245Arg",
"transcript": "ENST00000714268.1",
"protein_id": "ENSP00000519549.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 542,
"cds_start": 733,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 3469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Gly255Arg",
"transcript": "ENST00000593223.2",
"protein_id": "ENSP00000466118.2",
"transcript_support_level": 3,
"aa_start": 255,
"aa_end": null,
"aa_length": 493,
"cds_start": 763,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 4980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Gly184Arg",
"transcript": "ENST00000714266.1",
"protein_id": "ENSP00000519547.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 481,
"cds_start": 550,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 3285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Gly255Arg",
"transcript": "ENST00000714269.1",
"protein_id": "ENSP00000519550.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 476,
"cds_start": 763,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Gly255Arg",
"transcript": "NM_001407043.1",
"protein_id": "NP_001393972.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 381,
"cds_start": 763,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Asp255His",
"transcript": "ENST00000714272.1",
"protein_id": "ENSP00000519553.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 544,
"cds_start": 763,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.763G>C",
"hgvs_p": null,
"transcript": "ENST00000592186.5",
"protein_id": "ENSP00000468611.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.763G>C",
"hgvs_p": null,
"transcript": "ENST00000611848.2",
"protein_id": "ENSP00000478613.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.2135G>C",
"hgvs_p": null,
"transcript": "ENST00000684953.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.871G>C",
"hgvs_p": null,
"transcript": "ENST00000685232.1",
"protein_id": null,
"transcript_support_level": null,
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}