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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: 4-94253676-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=94253676&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 94253676,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000354268.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.1281+669G>C",
"hgvs_p": null,
"transcript": "NM_020159.5",
"protein_id": "NP_064544.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1026,
"cds_start": -4,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5094,
"mane_select": "ENST00000354268.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.1281+669G>C",
"hgvs_p": null,
"transcript": "ENST00000354268.9",
"protein_id": "ENSP00000346217.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1026,
"cds_start": -4,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5094,
"mane_select": "NM_020159.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.1281+669G>C",
"hgvs_p": null,
"transcript": "ENST00000359052.8",
"protein_id": "ENSP00000351947.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1028,
"cds_start": -4,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.1281+669G>C",
"hgvs_p": null,
"transcript": "ENST00000457823.6",
"protein_id": "ENSP00000415576.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1028,
"cds_start": -4,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.1281+669G>C",
"hgvs_p": null,
"transcript": "NM_001128429.3",
"protein_id": "NP_001121901.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1028,
"cds_start": -4,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.1281+669G>C",
"hgvs_p": null,
"transcript": "NM_001128430.2",
"protein_id": "NP_001121902.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1028,
"cds_start": -4,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.1281+669G>C",
"hgvs_p": null,
"transcript": "NM_001375855.1",
"protein_id": "NP_001362784.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1026,
"cds_start": -4,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.1281+669G>C",
"hgvs_p": null,
"transcript": "NM_001375856.1",
"protein_id": "NP_001362785.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1026,
"cds_start": -4,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.1278+669G>C",
"hgvs_p": null,
"transcript": "NM_001375857.1",
"protein_id": "NP_001362786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1025,
"cds_start": -4,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.1281+669G>C",
"hgvs_p": null,
"transcript": "NM_001375858.1",
"protein_id": "NP_001362787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1019,
"cds_start": -4,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
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"cdna_length": 4995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.-10+5G>C",
"hgvs_p": null,
"transcript": "NM_001375859.1",
"protein_id": "NP_001362788.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 598,
"cds_start": -4,
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"cds_length": 1797,
"cdna_start": null,
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"cdna_length": 3927,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.-10+5G>C",
"hgvs_p": null,
"transcript": "NM_001254949.2",
"protein_id": "NP_001241878.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 596,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "c.-10+5G>C",
"hgvs_p": null,
"transcript": "ENST00000509418.1",
"protein_id": "ENSP00000423286.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 10,
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"gene_symbol": "SMARCAD1",
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"hgvs_c": "n.*1186+669G>C",
"hgvs_p": null,
"transcript": "ENST00000394961.6",
"protein_id": "ENSP00000378413.2",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 10,
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"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "n.*619+669G>C",
"hgvs_p": null,
"transcript": "ENST00000510105.5",
"protein_id": "ENSP00000424624.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 10,
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"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "n.1607+669G>C",
"hgvs_p": null,
"transcript": "NR_045644.2",
"protein_id": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "n.1458+669G>C",
"hgvs_p": null,
"transcript": "NR_164722.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "n.1536+669G>C",
"hgvs_p": null,
"transcript": "NR_164723.1",
"protein_id": null,
"transcript_support_level": null,
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"aa_length": null,
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},
{
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"protein_coding": false,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "n.1548+669G>C",
"hgvs_p": null,
"transcript": "NR_164724.1",
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},
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],
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"intron_rank": 9,
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"gene_symbol": "SMARCAD1",
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"hgvs_c": "n.1458+669G>C",
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"transcript": "NR_164725.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "SMARCAD1",
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"hgvs_c": "n.1357+669G>C",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "n.1533+669G>C",
"hgvs_p": null,
"transcript": "NR_164727.1",
"protein_id": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SMARCAD1",
"gene_hgnc_id": 18398,
"hgvs_c": "n.1536+669G>C",
"hgvs_p": null,
"transcript": "NR_164728.1",
"protein_id": null,
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}