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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: 4-94252628-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=94252628&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 94252628,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000354268.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.902T>C",
"hgvs_p": "p.Val301Ala",
"transcript": "NM_020159.5",
"protein_id": "NP_064544.2",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 1026,
"cds_start": 902,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 5094,
"mane_select": "ENST00000354268.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.902T>C",
"hgvs_p": "p.Val301Ala",
"transcript": "ENST00000354268.9",
"protein_id": "ENSP00000346217.4",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 1026,
"cds_start": 902,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 5094,
"mane_select": "NM_020159.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.902T>C",
"hgvs_p": "p.Val301Ala",
"transcript": "ENST00000359052.8",
"protein_id": "ENSP00000351947.4",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 1028,
"cds_start": 902,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 5017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.902T>C",
"hgvs_p": "p.Val301Ala",
"transcript": "ENST00000457823.6",
"protein_id": "ENSP00000415576.2",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 1028,
"cds_start": 902,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.902T>C",
"hgvs_p": "p.Val301Ala",
"transcript": "NM_001128429.3",
"protein_id": "NP_001121901.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 1028,
"cds_start": 902,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 5100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.902T>C",
"hgvs_p": "p.Val301Ala",
"transcript": "NM_001128430.2",
"protein_id": "NP_001121902.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 1028,
"cds_start": 902,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 5022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.902T>C",
"hgvs_p": "p.Val301Ala",
"transcript": "NM_001375855.1",
"protein_id": "NP_001362784.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 1026,
"cds_start": 902,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.902T>C",
"hgvs_p": "p.Val301Ala",
"transcript": "NM_001375856.1",
"protein_id": "NP_001362785.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 1026,
"cds_start": 902,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 4987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.899T>C",
"hgvs_p": "p.Val300Ala",
"transcript": "NM_001375857.1",
"protein_id": "NP_001362786.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 1025,
"cds_start": 899,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 5091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.902T>C",
"hgvs_p": "p.Val301Ala",
"transcript": "NM_001375858.1",
"protein_id": "NP_001362787.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 1019,
"cds_start": 902,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 4995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.902T>C",
"hgvs_p": "p.Val301Ala",
"transcript": "XM_024454154.2",
"protein_id": "XP_024309922.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 1028,
"cds_start": 902,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 4993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.62T>C",
"hgvs_p": "p.Val21Ala",
"transcript": "XM_047415987.1",
"protein_id": "XP_047271943.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 748,
"cds_start": 62,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 7706,
"cdna_end": null,
"cdna_length": 11649,
"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": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "n.*807T>C",
"hgvs_p": null,
"transcript": "ENST00000394961.6",
"protein_id": "ENSP00000378413.2",
"transcript_support_level": 2,
"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": 3778,
"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": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "n.*240T>C",
"hgvs_p": null,
"transcript": "ENST00000510105.5",
"protein_id": "ENSP00000424624.1",
"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": 2409,
"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": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "n.1228T>C",
"hgvs_p": null,
"transcript": "NR_045644.2",
"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": 5171,
"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": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "n.1079T>C",
"hgvs_p": null,
"transcript": "NR_164722.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 5199,
"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": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "n.1157T>C",
"hgvs_p": null,
"transcript": "NR_164723.1",
"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": 5277,
"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": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "n.1169T>C",
"hgvs_p": null,
"transcript": "NR_164724.1",
"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": 5301,
"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": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "n.1079T>C",
"hgvs_p": null,
"transcript": "NR_164725.1",
"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": 4992,
"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": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "n.978T>C",
"hgvs_p": null,
"transcript": "NR_164726.1",
"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,
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"cdna_length": 5218,
"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": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "n.1154T>C",
"hgvs_p": null,
"transcript": "NR_164727.1",
"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": 5463,
"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": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "n.1157T>C",
"hgvs_p": null,
"transcript": "NR_164728.1",
"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": 5289,
"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": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "n.1079T>C",
"hgvs_p": null,
"transcript": "NR_164729.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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}
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}