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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: 7-103303914-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=103303914&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 103303914,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000249269.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Val177Ala",
"transcript": "NM_004279.3",
"protein_id": "NP_004270.2",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 489,
"cds_start": 530,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 3910,
"mane_select": "ENST00000249269.9",
"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": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Val177Ala",
"transcript": "ENST00000249269.9",
"protein_id": "ENSP00000249269.4",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 489,
"cds_start": 530,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 3910,
"mane_select": "NM_004279.3",
"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": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Val177Ala",
"transcript": "ENST00000428154.5",
"protein_id": "ENSP00000390035.1",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 490,
"cds_start": 530,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1714,
"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": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Val177Ala",
"transcript": "ENST00000706454.1",
"protein_id": "ENSP00000516392.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 508,
"cds_start": 530,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 3461,
"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": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Val177Ala",
"transcript": "ENST00000706453.1",
"protein_id": "ENSP00000516391.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 506,
"cds_start": 530,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 2158,
"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": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Val177Ala",
"transcript": "ENST00000706442.1",
"protein_id": "ENSP00000516383.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 502,
"cds_start": 530,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 1632,
"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": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Val177Ala",
"transcript": "NM_001438231.1",
"protein_id": "NP_001425160.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 490,
"cds_start": 530,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1862,
"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": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Val177Ala",
"transcript": "ENST00000706450.1",
"protein_id": "ENSP00000516388.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 482,
"cds_start": 530,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 1580,
"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": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Val177Ala",
"transcript": "ENST00000706437.1",
"protein_id": "ENSP00000516380.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 475,
"cds_start": 530,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 2425,
"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": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Val177Ala",
"transcript": "XM_005250717.4",
"protein_id": "XP_005250774.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 508,
"cds_start": 530,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 2402,
"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": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Val177Ala",
"transcript": "XM_006716181.5",
"protein_id": "XP_006716244.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 506,
"cds_start": 530,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 2160,
"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": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Val177Ala",
"transcript": "XM_047421050.1",
"protein_id": "XP_047277006.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 506,
"cds_start": 530,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1561,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "c.530T>C",
"hgvs_p": "p.Val177Ala",
"transcript": "XM_047421052.1",
"protein_id": "XP_047277008.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 250,
"cds_start": 530,
"cds_end": null,
"cds_length": 753,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 905,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "n.*165T>C",
"hgvs_p": null,
"transcript": "ENST00000443722.5",
"protein_id": "ENSP00000402859.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "n.*556T>C",
"hgvs_p": null,
"transcript": "ENST00000444457.5",
"protein_id": "ENSP00000388934.1",
"transcript_support_level": 2,
"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": 2385,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "n.*165T>C",
"hgvs_p": null,
"transcript": "ENST00000453466.1",
"protein_id": "ENSP00000408682.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"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": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "n.570T>C",
"hgvs_p": null,
"transcript": "ENST00000469560.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "n.534T>C",
"hgvs_p": null,
"transcript": "ENST00000498530.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"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
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "n.570T>C",
"hgvs_p": null,
"transcript": "ENST00000706438.1",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "n.530T>C",
"hgvs_p": null,
"transcript": "ENST00000706439.1",
"protein_id": "ENSP00000516381.1",
"transcript_support_level": null,
"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "n.530T>C",
"hgvs_p": null,
"transcript": "ENST00000706440.1",
"protein_id": "ENSP00000516382.1",
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"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "n.570T>C",
"hgvs_p": null,
"transcript": "ENST00000706441.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 5745,
"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": "PMPCB",
"gene_hgnc_id": 9119,
"hgvs_c": "n.530T>C",
"hgvs_p": null,
"transcript": "ENST00000706443.1",
"protein_id": "ENSP00000516384.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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